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Add immunodeficiency 132B
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src/ontology/doid-edit.owl

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@@ -2120,6 +2120,7 @@ Declaration(Class(obo:DOID_0061093))
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Declaration(Class(obo:DOID_0061094))
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Declaration(Class(obo:DOID_0061095))
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Declaration(Class(obo:DOID_0061096))
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Declaration(Class(obo:DOID_0061097))
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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))
@@ -43436,6 +43437,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061096 "immunodeficiency 133")
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SubClassOf(obo:DOID_0061096 obo:DOID_612)
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SubClassOf(obo:DOID_0061096 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061097 (immunodeficiency 132B)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/39579173/") obo:IAO_0000115 obo:DOID_0061097 "A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061097 "MIM:621096")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061097 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061097 "DOID:0061097")
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AnnotationAssertion(rdfs:label obo:DOID_0061097 "immunodeficiency 132B")
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SubClassOf(obo:DOID_0061097 obo:DOID_612)
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SubClassOf(obo:DOID_0061097 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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SubClassOf(obo:DOID_0061097 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0011463))
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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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