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src/ontology/doid-edit.owl

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@@ -97663,7 +97663,7 @@ SubClassOf(obo:DOID_0111966 obo:DOID_0111962)
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# Class: obo:DOID_0111967 (immunodeficiency 54)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16532402/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22354167/") obo:IAO_0000115 obo:DOID_0111967 "An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16532402/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/22354167/") obo:IAO_0000115 obo:DOID_0111967 "A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111967 "MESH:C566492")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111967 "MIM:609981")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111967 "NCI:C123729")

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