Term Name: | congenital dyserythropoietic anemia type III |
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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 anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25. |
Ontology: | Human Disease [DOID:0111399] ( DOID:0111399 ) |