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Add Perrault syndrome 2
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src/ontology/doid-edit.owl

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@@ -2147,6 +2147,7 @@ Declaration(Class(obo:DOID_0061113))
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Declaration(Class(obo:DOID_0061114))
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Declaration(Class(obo:DOID_0061115))
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Declaration(Class(obo:DOID_0061116))
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Declaration(Class(obo:DOID_0061117))
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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))
@@ -26312,7 +26313,6 @@ AnnotationAssertion(oboInOwl:creation_date obo:DOID_0050857 "2014-04-24T01:56:35
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050857 "GARD:2542")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050857 "MIM:233400")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050857 "MIM:614129")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050857 "MIM:614926")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050857 "MIM:615300")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050857 "MIM:PS233400")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0050857 "ORDO:2855")
@@ -43781,6 +43781,15 @@ AnnotationAssertion(rdfs:label obo:DOID_0061116 "Carey-Fineman-Ziter syndrome 2"
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SubClassOf(obo:DOID_0061116 obo:DOID_0080194)
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SubClassOf(obo:DOID_0061116 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061117 (Perrault syndrome 2)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/21464306/") obo:IAO_0000115 obo:DOID_0061117 "A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061117 "MIM:614926")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061117 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061117 "DOID:0061117")
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AnnotationAssertion(rdfs:label obo:DOID_0061117 "Perrault syndrome 2")
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SubClassOf(obo:DOID_0061117 obo:DOID_0050857)
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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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