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Add BCARD syndrome
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src/ontology/doid-edit.owl

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@@ -2231,6 +2231,7 @@ Declaration(Class(obo:DOID_0061193))
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Declaration(Class(obo:DOID_0061194))
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Declaration(Class(obo:DOID_0061195))
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Declaration(Class(obo:DOID_0061196))
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Declaration(Class(obo:DOID_0061197))
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Declaration(Class(obo:DOID_0070000))
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Declaration(Class(obo:DOID_0070001))
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Declaration(Class(obo:DOID_0070002))
@@ -44952,6 +44953,17 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061196 "DOID:0061196")
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AnnotationAssertion(rdfs:label obo:DOID_0061196 "Mietens syndrome")
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SubClassOf(obo:DOID_0061196 obo:DOID_225)
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# Class: obo:DOID_0061197 (BCARD syndrome)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31129566/") obo:IAO_0000115 obo:DOID_0061197 "A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061197 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061197 "MIM:612394")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061197 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061197 "DOID:0061197")
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AnnotationAssertion(rdfs:label obo:DOID_0061197 "BCARD syndrome")
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SubClassOf(obo:DOID_0061197 obo:DOID_65)
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SubClassOf(obo:DOID_0061197 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
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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.")

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