@@ -45184,7 +45184,7 @@ AnnotationAssertion(oboInOwl:created_by obo:DOID_0061251 "claudiasbj")
4518445184AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061251 "MIM:621466")
4518545185AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061251 "disease_ontology")
4518645186AnnotationAssertion(oboInOwl:id obo:DOID_0061251 "DOID:0061251")
45187- AnnotationAssertion(rdfs:label obo:DOID_0061251 "Charcot-Marie-Tooth disease type 2KK"@en )
45187+ AnnotationAssertion(rdfs:label obo:DOID_0061251 "Charcot-Marie-Tooth disease type 2KK")
4518845188SubClassOf(obo:DOID_0061251 obo:DOID_0050539)
4518945189SubClassOf(obo:DOID_0061251 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
4519045190
@@ -51969,14 +51969,12 @@ SubClassOf(obo:DOID_0070497 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
5196951969
5197051970AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/24462369/") obo:IAO_0000115 obo:DOID_0070498 "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2.")
5197151971AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070498 "MIM:619055")
51972- AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070498 "UMLS_CUI:C5436694")
5197351972AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070498 "UMLS_CUI:C5436695")
5197451973AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070498 "MC4DN12")
5197551974AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070498 "disease_ontology")
5197651975AnnotationAssertion(oboInOwl:id obo:DOID_0070498 "DOID:0070498")
5197751976AnnotationAssertion(rdfs:label obo:DOID_0070498 "mitochondrial complex IV deficiency nuclear type 12")
5197851977AnnotationAssertion(skos:exactMatch obo:DOID_0070498 "MIM:619055")
51979- AnnotationAssertion(skos:exactMatch obo:DOID_0070498 "UMLS_CUI:C5436694")
5198051978AnnotationAssertion(skos:exactMatch obo:DOID_0070498 "UMLS_CUI:C5436695")
5198151979SubClassOf(obo:DOID_0070498 obo:DOID_0081377)
5198251980SubClassOf(obo:DOID_0070498 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
@@ -65223,7 +65221,7 @@ AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080906 "disease_ontology"
6522365221AnnotationAssertion(oboInOwl:id obo:DOID_0080906 "DOID:0080906")
6522465222AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080906 doid:DO_cancer_slim)
6522565223AnnotationAssertion(rdfs:label obo:DOID_0080906 "CNS neuroblastoma with FOXR2 activation")
65226- AnnotationAssertion(skos:broadMatch obo:DOID_0080906 "UMLS CUI: C0700095")
65224+ AnnotationAssertion(skos:broadMatch obo:DOID_0080906 "UMLS_CUI: C0700095")
6522765225AnnotationAssertion(skos:exactMatch obo:DOID_0080906 "NCI:C186547")
6522865226SubClassOf(obo:DOID_0080906 obo:DOID_0080905)
6522965227
@@ -101544,7 +101542,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111973 "MIM:615607")
101544101542AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111973 "ORDO:169082")
101545101543AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111973 "SNOMEDCT_US_2025_09_01:766879006")
101546101544AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111973 "UMLS_CUI:C3810107")
101547- AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111973 "UMLS_CUI:C4707864 ")
101545+ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111973 "UMLS_CUI:C4510864 ")
101548101546AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111973 "CD3-gamma deficiency")
101549101547AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0111973 "IMD17")
101550101548AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111973 "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive")
@@ -101554,7 +101552,7 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0111973 "DOID:0111973")
101554101552AnnotationAssertion(rdfs:label obo:DOID_0111973 "immunodeficiency 17")
101555101553AnnotationAssertion(skos:exactMatch obo:DOID_0111973 "ORDO:169082")
101556101554AnnotationAssertion(skos:exactMatch obo:DOID_0111973 "UMLS_CUI:C3810107")
101557- AnnotationAssertion(skos:exactMatch obo:DOID_0111973 "UMLS_CUI:C4707864 ")
101555+ AnnotationAssertion(skos:exactMatch obo:DOID_0111973 "UMLS_CUI:C4510864 ")
101558101556SubClassOf(obo:DOID_0111973 obo:DOID_11200)
101559101557SubClassOf(obo:DOID_0111973 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
101560101558
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