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Add Charcot-Marie-Tooth disease type 2KK
#1580
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src/ontology/doid-edit.owl

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@@ -2293,6 +2293,7 @@ Declaration(Class(obo:DOID_0061247))
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Declaration(Class(obo:DOID_0061248))
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Declaration(Class(obo:DOID_0061249))
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Declaration(Class(obo:DOID_0061250))
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Declaration(Class(obo:DOID_0061251))
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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))
@@ -45025,6 +45026,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061250 "familial hyperaldosteronism IV"
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SubClassOf(obo:DOID_0061250 obo:DOID_0061247)
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SubClassOf(obo:DOID_0061250 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0061251 (Charcot-Marie-Tooth disease type 2KK)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/41086021/") obo:IAO_0000115 obo:DOID_0061251 "A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19 gene on chromosome 10q24.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061251 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061251 "MIM:621466")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061251 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061251 "DOID:0061251")
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AnnotationAssertion(rdfs:label obo:DOID_0061251 "Charcot-Marie-Tooth disease type 2KK"@en)
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SubClassOf(obo:DOID_0061251 obo:DOID_0050539)
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SubClassOf(obo:DOID_0061251 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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