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add hemophilia and subtypes
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#1422
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@csbjohnson
csbjohnson committed Jan 28, 2025
1 parent f2a31b8 commit 4455a87
Showing 1 changed file with 23 additions and 11 deletions.
34 changes: 23 additions & 11 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -2020,6 +2020,7 @@ Declaration(Class(obo:DOID_0061026))
Declaration(Class(obo:DOID_0061027))
Declaration(Class(obo:DOID_0061028))
Declaration(Class(obo:DOID_0061029))
Declaration(Class(obo:DOID_0061030))
Declaration(Class(obo:DOID_0070000))
Declaration(Class(obo:DOID_0070001))
Declaration(Class(obo:DOID_0070002))
Expand Down Expand Up @@ -39053,7 +39054,7 @@ SubClassOf(obo:DOID_0060784 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0060785 (typical adult-onset autosomal dominant demyelinating leukodystrophy)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16951681") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19151023") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK338165/") obo:IAO_0000115 obo:DOID_0060785 "A leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK338165/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/16951681") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/19151023") obo:IAO_0000115 obo:DOID_0060785 "A leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060785 "GARD:10587")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060785 "MIM:169500")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060785 "ORDO:99027")
Expand Down Expand Up @@ -42291,6 +42292,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061029 "Duane retraction syndrome 3")
SubClassOf(obo:DOID_0061029 obo:DOID_12557)
SubClassOf(obo:DOID_0061029 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0061030 (hemophilia)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/hemophilia.html") Annotation(oboInOwl:hasDbXref "url:https://www.nhlbi.nih.gov/health/bleeding-disorders/types") obo:IAO_0000115 obo:DOID_0061030 "A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061030 "GARD:0418")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061030 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0061030 "DOID:0061030")
AnnotationAssertion(rdfs:label obo:DOID_0061030 "hemophilia"@en)
SubClassOf(obo:DOID_0061030 obo:DOID_1247)
SubClassOf(obo:DOID_0061030 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000007))

# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.")
Expand Down Expand Up @@ -95323,13 +95334,13 @@ SubClassOf(obo:DOID_0111822 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014

# Class: obo:DOID_0111823 (autosomal hemophilia A)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1169993") obo:IAO_0000115 obo:DOID_0111823 "A blood coagulation disease characterized by autosomal inheritance of a Factor VIII deficiency.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1169993") obo:IAO_0000115 obo:DOID_0111823 "A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111823 "MIM:134500")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111823 "autosomal Factor VIII deficiency")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111823 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0111823 "DOID:0111823")
AnnotationAssertion(rdfs:label obo:DOID_0111823 "autosomal hemophilia A")
SubClassOf(obo:DOID_0111823 obo:DOID_1247)
SubClassOf(obo:DOID_0111823 obo:DOID_0061030)
SubClassOf(obo:DOID_0111823 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000934))

# Class: obo:DOID_0111824 (Aarskog syndrome)
Expand Down Expand Up @@ -119118,7 +119129,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_12133 "true"^^xsd:boolean)

# Class: obo:DOID_12134 (factor VIII deficiency)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemophilia_A") Annotation(rdfs:comment "sn:IEDB") obo:IAO_0000115 obo:DOID_12134 "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Hemophilia_A") Annotation(rdfs:comment "sn:IEDB") obo:IAO_0000115 obo:DOID_12134 "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12134 "GARD:6591")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12134 "ICD10CM:D66")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12134 "ICD9CM:286.0")
Expand All @@ -119132,14 +119143,15 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12134 "Congenital factor V
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12134 "Hemophilia A")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12134 "Subhemophilia")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12134 "classic hemophilia A")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_12134 "classic hemophilia")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_12134 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_12134 "DOID:12134")
AnnotationAssertion(oboInOwl:inSubset obo:DOID_12134 doid:DO_rare_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_12134 doid:NCIthesaurus)
AnnotationAssertion(rdfs:comment obo:DOID_12134 "OMIM mapping confirmed by DO. [SN].")
AnnotationAssertion(rdfs:label obo:DOID_12134 "factor VIII deficiency")
AnnotationAssertion(skos:exactMatch obo:DOID_12134 "MESH:D006467")
SubClassOf(obo:DOID_12134 obo:DOID_1247)
SubClassOf(obo:DOID_12134 obo:DOID_0061030)
SubClassOf(obo:DOID_12134 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000149))

# Class: obo:DOID_12135 (obsolete acquired factor VIII deficiency)
Expand Down Expand Up @@ -120175,7 +120187,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_12258 "true"^^xsd:boolean)

# Class: obo:DOID_12259 (hemophilia B)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007640) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm") obo:IAO_0000115 obo:DOID_12259 "A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007640) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm") obo:IAO_0000115 obo:DOID_12259 "A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12259 "GARD:8732")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12259 "ICD10CM:D67")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12259 "ICD9CM:286.1")
Expand All @@ -120194,7 +120206,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_12259 doid:DO_rare_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_12259 doid:NCIthesaurus)
AnnotationAssertion(rdfs:comment obo:DOID_12259 "OMIM mapping confirmed by DO. [SN].")
AnnotationAssertion(rdfs:label obo:DOID_12259 "hemophilia B")
SubClassOf(obo:DOID_12259 obo:DOID_1247)
SubClassOf(obo:DOID_12259 obo:DOID_0061030)
SubClassOf(obo:DOID_12259 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000149))

# Class: obo:DOID_12265 (chronic salpingo-oophoritis)
Expand Down Expand Up @@ -122005,7 +122017,7 @@ AnnotationAssertion(owl:deprecated obo:DOID_1253 "true"^^xsd:boolean)

# Class: obo:DOID_12531 (von Willebrand's disease)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Von_Willebrand_disease") Annotation(oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/von-willebrand-disease") obo:IAO_0000115 obo:DOID_12531 "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Von_Willebrand_disease") Annotation(oboInOwl:hasDbXref "url:http://ghr.nlm.nih.gov/condition/von-willebrand-disease") obo:IAO_0000115 obo:DOID_12531 "A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12531 "GARD:7867")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12531 "ICD10CM:D68.0")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_12531 "ICD9CM:286.4")
Expand All @@ -122025,7 +122037,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_12531 doid:DO_rare_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_12531 doid:NCIthesaurus)
AnnotationAssertion(rdfs:comment obo:DOID_12531 "OMIM mapping confirmed by DO. [SN].")
AnnotationAssertion(rdfs:label obo:DOID_12531 "von Willebrand's disease")
SubClassOf(obo:DOID_12531 obo:DOID_1247)
SubClassOf(obo:DOID_12531 obo:DOID_0061030)

# Class: obo:DOID_12537 (hypermobility of coccyx)

Expand Down Expand Up @@ -143982,7 +143994,7 @@ SubClassOf(obo:DOID_2228 obo:DOID_2218)

# Class: obo:DOID_2229 (factor XI deficiency)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/factor-xi-deficiency") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/612416") obo:IAO_0000115 obo:DOID_2229 "A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/factor-xi-deficiency") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/612416") obo:IAO_0000115 obo:DOID_2229 "A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2229 "GARD:9670")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2229 "ICD10CM:D68.1")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_2229 "ICD9CM:286.2")
Expand All @@ -144002,7 +144014,7 @@ AnnotationAssertion(oboInOwl:inSubset obo:DOID_2229 doid:DO_rare_slim)
AnnotationAssertion(oboInOwl:inSubset obo:DOID_2229 doid:NCIthesaurus)
AnnotationAssertion(rdfs:comment obo:DOID_2229 "OMIM mapping confirmed by DO. [SN].")
AnnotationAssertion(rdfs:label obo:DOID_2229 "factor XI deficiency")
SubClassOf(obo:DOID_2229 obo:DOID_1247)
SubClassOf(obo:DOID_2229 obo:DOID_0061030)
SubClassOf(obo:DOID_2229 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000934))
SubClassOf(obo:DOID_2229 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000007))

Expand Down

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