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Update inheritance of congenital dyserythropoietic anemia type IIIa
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Issue #1090
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csbjohnson committed Dec 30, 2024
1 parent 69cbd20 commit 9316053
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2 changes: 1 addition & 1 deletion src/ontology/doid-edit.owl
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Expand Up @@ -88683,7 +88683,7 @@ SubClassOf(obo:DOID_0111398 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))

# Class: obo:DOID_0111399 (congenital dyserythropoietic anemia type IIIa)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7711721") obo:IAO_0000115 obo:DOID_0111399 "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene (605064) on chromosome 15q23."@en)
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/7711721") obo:IAO_0000115 obo:DOID_0111399 "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111399 "GARD:2002")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111399 "MIM:105600")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111399 "ORDO:98870")
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