diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index c93b489504..b756dcc173 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -153496,9 +153496,12 @@ xref: UMLS:C2675055 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:153700 xref: UMLS:C2745945 {source="Orphanet:1243", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153700"} is_a: MONDO:0000390 {source="DC-OMIM:153700", source="OMIM:153700"} ! vitelliform macular dystrophy is_a: MONDO:0020242 {source="MONDO:Redundant", source="Orphanet:1243"} ! hereditary macular dystrophy +is_a: MONDO:0700238 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1-related dominant retinopathy intersection_of: MONDO:0000390 ! vitelliform macular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 ! BEST1 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy" xsd:anyURI {source="GARD:0010301"} [Term] @@ -170800,9 +170803,12 @@ xref: UMLS:C1860406 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoun xref: UMLS:C2674009 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:193220"} xref: UMLS:C3888099 {source="MONDO:equivalentTo", source="Orphanet:3086"} is_a: MONDO:0020248 {source="Orphanet:3086"} ! vitreoretinal degeneration +is_a: MONDO:0700240 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1-related vitreoretinochoroidopathy +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1 property_value: confidence "2.461538461538462" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0008663 @@ -202309,6 +202315,7 @@ xref: UMLS:C0432252 {source="OMIM:259770", source="NCIT:C130998", source="MONDO: is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130998"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060849", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0020247 {source="Orphanet:2788"} ! congenital vitreoretinal dysplasia +is_a: MONDO:0700228 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! LRP5-related exudative vitreoretinopathy is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. relationship: disease_has_feature HP:0004349 {source="Orphanet:2788"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2788"} ! syndromic intellectual disability @@ -202319,6 +202326,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ property_value: confidence "36.6984126984127" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome" xsd:anyURI {source="GARD:0004160"} [Term] @@ -213888,12 +213896,14 @@ xref: OMIM:300071 {source="MONDO:equivalentTo", source="DOID:0110871"} xref: UMLS:C1848172 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300071"} is_a: MONDO:0016293 {source="DC-OMIM:300071", source="DOID:0110871", source="MONDO:Entailed", source="OMIM:300071"} ! congenital stationary night blindness is_a: MONDO:0044749 {source="MONDO:cjm"} ! X-linked congenital stationary night blindness +is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA1F-related retinopathy intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 ! CACNA1F relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0010242 @@ -216475,11 +216485,13 @@ xref: GARD:10654 {source="OMIM:300476"} xref: MESH:C564507 {source="MONDO:equivalentTo"} xref: OMIM:300476 {source="DOID:0111007", source="MONDO:equivalentTo"} xref: UMLS:C1845407 {source="OMIM:300476", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA1F-related retinopathy intersection_of: MONDO:0021155 ! X-linked cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 ! CACNA1F relationship: has_characteristic HP:0001417 {source="OMIM:300476"} ! X-linked inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3" xsd:anyURI {source="GARD:0010654"} [Term] @@ -217427,10 +217439,12 @@ xref: Orphanet:178333 {source="MONDO:equivalentTo", source="OMIM:300600"} xref: SCTID:266455006 {source="MONDO:equivalentTo"} xref: UMLS:C0268505 {source="Orphanet:178333", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300600"} is_a: MONDO:0005283 {source="https://orcid.org/0000-0001-5208-3432"} ! retinal disorder +is_a: MONDO:0700243 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA1F-related retinopathy relationship: excluded_subClassOf MONDO:0019118 {source="Orphanet:178333"} ! inherited retinal dystrophy relationship: has_characteristic HP:0001417 {source="Orphanet:178333", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 {source="MONDO:mim2gene_medgen"} ! CACNA1F property_value: confidence "5.000000000000001" xsd:double +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0010372 @@ -219078,9 +219092,11 @@ xref: OMIM:300814 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:300814"} xref: UMLS:C3151752 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300814"} is_a: MONDO:0005712 {source="DC-OMIM:300814", source="OMIM:300814"} ! congenital nystagmus +is_a: MONDO:0700230 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! GPR143-related foveal hypoplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 {source="MONDO:mim2gene_medgen"} ! GPR143 property_value: confidence "5.0" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0010436 @@ -229285,6 +229301,7 @@ xref: UMLS:C1838702 {source="OMIM:600059", source="MONDO:equivalentTo", source=" is_a: MONDO:0019200 {source="DC-OMIM:600059", source="DOID:0110403", source="MESH:C564008", source="MONDO:Redundant", source="OMIM:600059"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17340 ! PRPF8 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17340 {source="MONDO:mim2gene_medgen"} ! PRPF8 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13" xsd:anyURI {source="GARD:0010388"} @@ -229618,7 +229635,10 @@ xref: OMIM:600110 {source="MONDO:equivalentTo"} xref: Orphanet:827 {source="OMIM:600110"} xref: UMLS:C1838644 {source="OMIM:600110", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019353 {source="DC-OMIM:600110"} ! Stargardt disease +is_a: MONDO:0700227 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! ELOVL4-related maculopathy +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: confidence "0.13378684807256236" xsd:double +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0010820 @@ -237822,8 +237842,10 @@ xref: OMIM:601813 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:601813"} xref: UMLS:C1866176 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601813"} is_a: MONDO:0019516 {source="DC-OMIM:601813", source="OMIM:601813"} ! exudative vitreoretinopathy +is_a: MONDO:0700228 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! LRP5-related exudative vitreoretinopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 {source="MONDO:mim2gene_medgen"} ! LRP5 property_value: confidence "0.9347826086956526" xsd:double +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0011152 @@ -266770,9 +266792,12 @@ xref: MESH:C563685 {source="MONDO:equivalentTo"} xref: OMIM:609923 {source="MONDO:equivalentTo", source="DOID:0110391"} xref: UMLS:C1835923 {source="OMIM:609923", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019200 {source="DC-OMIM:609923", source="DOID:0110391", source="MESH:C563685", source="MONDO:Redundant", source="OMIM:609923"} ! retinitis pigmentosa +is_a: MONDO:0700233 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! TOPORS-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21653 ! TOPORS +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21653 {source="MONDO:mim2gene_medgen"} ! TOPORS +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31" xsd:anyURI {source="GARD:0010396"} [Term] @@ -270122,10 +270147,13 @@ xref: OMIM:610478 {source="MONDO:equivalentTo"} xref: UMLS:C1864849 {source="MONDO:equivalentTo", source="OMIM:610478", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000455 {source="DC-OMIM:610478", source="MONDO:Redundant"} ! cone dystrophy is_a: MONDO:0015993 ! cone-rod dystrophy +is_a: MONDO:0700244 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA2D4-related retinopathy intersection_of: MONDO:0000455 ! cone dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 ! CACNA2D4 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 {source="MONDO:mim2gene_medgen"} ! CACNA2D4 property_value: confidence "0.30809469528042244" xsd:double +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4" xsd:anyURI {source="GARD:0010650"} [Term] @@ -270636,11 +270664,14 @@ xref: MESH:C565697 {source="MONDO:equivalentTo"} xref: OMIM:610612 {source="DOID:0110080", source="MONDO:equivalentTo"} xref: UMLS:C1857743 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:610612"} is_a: MONDO:0018998 {source="DC-OMIM:610612", source="DOID:0110080", source="MESH:C565697", source="MONDO:Redundant", source="OMIM:610612"} ! Leber congenital amaurosis +is_a: MONDO:0700235 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! RD3-related retinopathy intersection_of: MONDO:0018998 ! Leber congenital amaurosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19689 ! RD3 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19689 {source="MONDO:mim2gene_medgen"} ! RD3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12" xsd:anyURI {source="GARD:0010489"} [Term] @@ -275549,8 +275580,11 @@ xref: SCTID:723828008 {source="MONDO:equivalentTo"} xref: UMLS:C3888198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0003004 {source="DOID:0050662"} ! macular degeneration is_a: MONDO:0019118 {source="Orphanet:139455"} ! inherited retinal dystrophy +is_a: MONDO:0700239 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1-related recessive retinopathy +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="MONDO:mim2gene_medgen"} ! BEST1 property_value: confidence "3.0625" xsd:double +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0012734 @@ -287306,11 +287340,11 @@ xref: Orphanet:891 {source="OMIM:613310"} xref: UMLS:C2750079 {source="OMIM:613310", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0019516 {source="DC-OMIM:613310", source="MONDO:Redundant", source="OMIM:613310"} ! exudative vitreoretinopathy is_a: MONDO:0100484 {source="https://clinicalgenome.org/affiliation/40072/"} ! TSPAN12-related vitreoretinopathy -intersection_of: MONDO:0019516 ! exudative vitreoretinopathy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21641 ! TSPAN12 +is_a: MONDO:0700231 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! TSPAN12-related exudative vitreoretinopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21641 {source="MONDO:mim2gene_medgen"} ! TSPAN12 property_value: confidence "0.9347826086956526" xsd:double +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0013219 @@ -289794,9 +289828,12 @@ xref: Orphanet:791 {source="OMIM:613581"} xref: UMLS:C3150819 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613581"} xref: UMLS:C3150820 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:613581"} is_a: MONDO:0019200 {source="DC-OMIM:613581", source="DOID:0110371", source="MONDO:Redundant", source="OMIM:613581"} ! retinitis pigmentosa +is_a: MONDO:0700241 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2-related recessive retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 ! IMPG2 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="MONDO:mim2gene_medgen"} ! IMPG2 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0013315 @@ -292845,9 +292882,12 @@ xref: ICD10CM:H35.5 {source="DOID:0110379", source="MONDO:relatedTo"} xref: OMIM:613810 {source="DOID:0110379", source="MONDO:equivalentTo"} xref: UMLS:C3151139 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613810"} is_a: MONDO:0019200 {source="DC-OMIM:613810", source="DOID:0110379", source="MONDO:Redundant", source="OMIM:613810"} ! retinitis pigmentosa +is_a: MONDO:0700224 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! PDE6A-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8785 ! PDE6A +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8785 {source="MONDO:mim2gene_medgen"} ! PDE6A +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0013438 @@ -296981,9 +297021,12 @@ xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110380"} xref: OMIM:614181 {source="MONDO:equivalentTo", source="DOID:0110380"} xref: UMLS:C3280042 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614181"} is_a: MONDO:0019200 {source="DC-OMIM:614181", source="DOID:0110380", source="MONDO:Redundant", source="OMIM:614181"} ! retinitis pigmentosa +is_a: MONDO:0700229 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! MAK-related retinopathy intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6816 ! MAK +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6816 {source="MONDO:mim2gene_medgen"} ! MAK +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0013612 @@ -314922,6 +314965,7 @@ xref: UMLS:C4014312 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_me is_a: MONDO:0019200 {source="DC-OMIM:615780", source="DOID:0110410", source="MONDO:Redundant", source="OMIM:615780"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15865 ! KIZ +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15865 {source="MONDO:mim2gene_medgen"} ! KIZ [Term] @@ -317234,10 +317278,13 @@ xref: MESH:C565918 {source="MONDO:equivalentTo"} xref: OMIM:615986 {source="MONDO:equivalentTo", source="DOID:0110131"} xref: UMLS:C1859567 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015229 {source="DC-OMIM:615986", source="DOID:0110131", source="EFO:0009027", source="MESH:C565918", source="MONDO:Redundant", source="OMIM:615986"} ! Bardet-Biedl syndrome +is_a: MONDO:0700236 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BBS9-related ciliopathy intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30000 ! BBS9 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615986"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30000 {source="MONDO:mim2gene_medgen"} ! BBS9 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9" xsd:anyURI {source="GARD:0010208"} [Term] @@ -317260,10 +317307,13 @@ xref: MESH:C565919 {source="MONDO:equivalentTo"} xref: OMIM:615987 {source="MONDO:equivalentTo", source="DOID:0110132"} xref: UMLS:C1859568 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0015229 {source="DC-OMIM:615987", source="DOID:0110132", source="EFO:0009022", source="MESH:C565919", source="MONDO:Redundant", source="OMIM:615987"} ! Bardet-Biedl syndrome +is_a: MONDO:0700237 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BBS10-related ciliopathy intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26291 ! BBS10 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615987"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26291 {source="MONDO:mim2gene_medgen"} ! BBS10 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0014439 @@ -319058,9 +319108,12 @@ xref: Orphanet:99000 {source="OMIM:616152"} xref: UMLS:C4015343 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:616152"} ! vitelliform macular dystrophy is_a: MONDO:0011979 {source="Orphanet:99000/btnt"} ! adult-onset foveomacular vitelliform dystrophy +is_a: MONDO:0700242 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2-related dominant retinopathy intersection_of: MONDO:0000390 ! vitelliform macular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 ! IMPG2 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="MONDO:mim2gene_medgen"} ! IMPG2 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0014510 @@ -446056,10 +446109,12 @@ xref: SCTID:78642008 {source="MONDO:equivalentTo"} xref: UMLS:C0342684 {source="Orphanet:54", source="NCIT:C118785", source="MONDO:equivalentTo", source="Orphanet:54/e", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300500"} is_a: MONDO:0017304 {source="MESH:C537863", source="MONDO:Redundant", source="Orphanet:54"} ! ocular albinism is_a: MONDO:0043209 {source="MESH:C537863/inferred", source="NCIT:C118785"} ! albinism +is_a: MONDO:0700230 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! GPR143-related foveal hypoplasia intersection_of: MONDO:0017304 ! ocular albinism intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 {source="MONDO:mim2gene_medgen"} ! GPR143 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI [Term] id: MONDO:0021020 @@ -516572,6 +516627,17 @@ intersection_of: MONDO:0020120 ! skeletal muscle disorder intersection_of: has_characteristic MONDO:0021152 ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI +[Term] +id: MONDO:0700224 +name: PDE6A-related retinopathy +def: "Any retinopathy caused by variants in the PDE6A gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "PDE6A-related retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8785 ! PDE6A +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + [Term] id: MONDO:0700225 name: hereditary gallbladder disorder @@ -516604,6 +516670,194 @@ xref: UMLS:C0016470 {source="DOID:3044", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0005271 {source="https://orcid.org/0000-0002-4142-7153"} ! allergic disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5914" xsd:anyURI +[Term] +id: MONDO:0700227 +name: ELOVL4-related maculopathy +def: "Any maculopathy caused by a variant in the ELOVL4 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "ELOVL4-related maculopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700228 +name: LRP5-related exudative vitreoretinopathy +def: "Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +synonym: "LRP5-related exudative vitreoretinopathy with or without osteoporosis" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019516 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! exudative vitreoretinopathy +intersection_of: MONDO:0019516 ! exudative vitreoretinopathy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 ! LRP5 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700229 +name: MAK-related retinopathy +def: "Any retinopathy caused by variants in the MAK gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "MAK-related retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6816 ! MAK +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700230 +name: GPR143-related foveal hypoplasia +def: "Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +synonym: "GPR143-related foveal hypoplasia with or without albinism" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0044203 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! foveal hypoplasia +intersection_of: MONDO:0044203 ! foveal hypoplasia +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 ! GPR143 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700231 +name: TSPAN12-related exudative vitreoretinopathy +def: "Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "TSPAN12-related exudative vitreoretinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019516 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! exudative vitreoretinopathy +intersection_of: MONDO:0019516 ! exudative vitreoretinopathy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21641 ! TSPAN12 +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700232 +name: KIZ-related retinopathy +def: "Any retinopathy caused by variants in the KIZ gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +synonym: "KIZ-related retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15865 ! KIZ +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700233 +name: TOPORS-related retinopathy +def: "Any retinopathy caused by a variant in the TOPORS gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "TOPORS-related retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21653 ! TOPORS +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700234 +name: PRPF8-related retinopathy +def: "Any retinopathy caused by a variant in the PRPF8 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +synonym: "PRPF8-related retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17340 ! PRPF8 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700235 +name: RD3-related retinopathy +def: "Any retinopathy caused by variants in the RD3 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "RD3-related retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19689 ! RD3 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700236 +name: BBS9-related ciliopathy +def: "Any ciliopathy caused by variants in the BBS9 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "BBS9-related ciliopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0005308 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! ciliopathy +intersection_of: MONDO:0005308 ! ciliopathy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30000 ! BBS9 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700237 +name: BBS10-related ciliopathy +def: "Any ciliopathy caused by variants in the BBS10 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "BBS10-related ciliopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0005308 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! ciliopathy +intersection_of: MONDO:0005308 ! ciliopathy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26291 ! BBS10 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700238 +name: BEST1-related dominant retinopathy +def: "Any retinopathy caused by a heterozygous variant in the BEST1 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "BEST1-related dominant retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700239 +name: BEST1-related recessive retinopathy +def: "Any retinopathy caused by bi-allelic variants in the BEST1 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "BEST1-related recessive retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700240 +name: BEST1-related vitreoretinochoroidopathy +def: "Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "ADVRIC" EXACT [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/, PMID:18611979, PMID:36712704] +synonym: "BEST1-related vitreoretinochoroidopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0020248 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! vitreoretinal degeneration +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12703 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! BEST1 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700241 +name: IMPG2-related recessive retinopathy +def: "Any retinopathy caused by bi-allelic variants in the IMPG2 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "IMPG2-related recessive retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700242 +name: IMPG2-related dominant retinopathy +def: "Any retinopathy caused by a heterozygous variant in the IMPG2 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "IMPG2-related dominant retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18362 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! IMPG2 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700243 +name: CACNA1F-related retinopathy +def: "Any retinopathy caused by a variant in the CACNA1F gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +synonym: "CACNA1F-related retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1393 ! CACNA1F +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + +[Term] +id: MONDO:0700244 +name: CACNA2D4-related retinopathy +def: "Any retinopathy caused by variants in the CACNA2D4 gene." [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +comment: This term captures the disease spectrum. At the time of creation (January 2024), this term is the ontological parent to only one term, but other clinical disease terms could be added in the future. If no additional ontological children are discovered, it is possible that this term might be merged with its single child. (https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/) +synonym: "CACNA2D4-related retinopathy" EXACT CLINGEN_PREFERRED [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/] +is_a: MONDO:0019118 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 ! CACNA2D4 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI + [Term] id: MONDO:0800001 name: delayed sleep phase syndrome, susceptibility to