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Add immunodeficiency 131
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src/ontology/doid-edit.owl

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@@ -2155,6 +2155,7 @@ Declaration(Class(obo:DOID_0061121))
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Declaration(Class(obo:DOID_0061122))
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Declaration(Class(obo:DOID_0061123))
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Declaration(Class(obo:DOID_0061124))
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Declaration(Class(obo:DOID_0061125))
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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))
@@ -43892,6 +43893,18 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061124 "DOID:0061124")
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AnnotationAssertion(rdfs:label obo:DOID_0061124 "autosomal recessive nonsyndromic deafness 125")
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SubClassOf(obo:DOID_0061124 obo:DOID_0050565)
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# Class: obo:DOID_0061125 (immunodeficiency 131)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36917008/") obo:IAO_0000115 obo:DOID_0061125 "A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061125 "MIM:621097")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061125 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061125 "DOID:0061125")
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AnnotationAssertion(rdfs:label obo:DOID_0061125 "immunodeficiency 131")
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SubClassOf(obo:DOID_0061125 obo:DOID_612)
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SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003593))
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SubClassOf(obo:DOID_0061125 ObjectSomeValuesFrom(obo:RO_0004026 obo:UBERON_0002048))
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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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