Term Name: | congenital dyserythropoietic anemia type IIIa |
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Synonyms: | anaemia with multinucleated erythroblasts, anemia with multinucleated erythroblasts, CDA III, CDA type 3, CDA type III, CDAN3, Congenital dyserythropoietic anaemia type 3, congenital dyserythropoietic anaemia type III, Congenital dyserythropoietic anemia type 3, hereditary benign erythroreticulosis |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111399] ( DOID:0111399 ) |