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Add immunodeficiency 130 with HPV-related verrucosis
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src/ontology/doid-edit.owl

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@@ -2202,6 +2202,7 @@ Declaration(Class(obo:DOID_0061167))
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Declaration(Class(obo:DOID_0061168))
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Declaration(Class(obo:DOID_0061169))
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Declaration(Class(obo:DOID_0061170))
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Declaration(Class(obo:DOID_0061171))
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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))
@@ -44549,6 +44550,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061170 "autosomal recessive autoinflamm
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SubClassOf(obo:DOID_0061170 obo:DOID_0080163)
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SubClassOf(obo:DOID_0061170 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061171 (immunodeficiency 130 with HPV-related verrucosis)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/39352394/") obo:IAO_0000115 obo:DOID_0061171 "A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061171 "MIM:618309")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061171 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061171 "DOID:0061171")
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AnnotationAssertion(rdfs:label obo:DOID_0061171 "immunodeficiency 130 with HPV-related verrucosis")
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SubClassOf(obo:DOID_0061171 obo:DOID_612)
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SubClassOf(obo:DOID_0061171 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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