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DO Term : congenital dyserythropoietic anemia type IIIa [DOID:0111399] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • hereditary benign erythroreticulosis,
  • Congenital dyserythropoietic anemia type 3,
  • congenital dyserythropoietic anaemia type III,
  • SNOMEDCT_US_2023_03_01:26409005,
  • ORDO:98870,
  • CDA III,
  • UMLS_CUI:C0271934,
  • OMIM:105600,
  • 105600,
  • CDAN3,
  • Congenital dyserythropoietic anaemia type 3,
  • CDA type III,
  • anaemia with multinucleated erythroblasts,
  • anemia with multinucleated erythroblasts,
  • GARD:2002,
  • CDA type 3
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