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Add familial hypercholanemia 1 and 2
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src/ontology/doid-edit.owl

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@@ -2212,6 +2212,8 @@ Declaration(Class(obo:DOID_0061177))
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Declaration(Class(obo:DOID_0061178))
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Declaration(Class(obo:DOID_0061179))
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Declaration(Class(obo:DOID_0061180))
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Declaration(Class(obo:DOID_0061181))
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Declaration(Class(obo:DOID_0061182))
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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))
@@ -44667,6 +44669,28 @@ AnnotationAssertion(rdfs:label obo:DOID_0061180 "familial hypercholanemia 3")
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SubClassOf(obo:DOID_0061180 obo:DOID_1701)
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SubClassOf(obo:DOID_0061180 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061181 (familial hypercholanemia 1)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/10889168/") obo:IAO_0000115 obo:DOID_0061181 "A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061181 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061181 "MIM:607748")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061181 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061181 "DOID:0061181")
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AnnotationAssertion(rdfs:label obo:DOID_0061181 "familial hypercholanemia 1")
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SubClassOf(obo:DOID_0061181 obo:DOID_1701)
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SubClassOf(obo:DOID_0061181 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061182 (familial hypercholanemia 2)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/28835676/") obo:IAO_0000115 obo:DOID_0061182 "A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061182 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061182 "MIM:619256")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061182 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061182 "DOID:0061182")
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AnnotationAssertion(rdfs:label obo:DOID_0061182 "familial hypercholanemia 2")
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SubClassOf(obo:DOID_0061182 obo:DOID_1701)
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SubClassOf(obo:DOID_0061182 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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