Term Name: | congenital dyserythropoietic anemia type IV |
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Synonyms: | CDA due to KLF1 mutation, CDA IV, CDA type 4, CDA type IV, CDAN4, Congenital dyserythropoietic anaemia due to KLF1 mutation, Congenital dyserythropoietic anaemia type 4, congenital dyserythropoietic anaemia type IV, Congenital dyserythropoietic anemia due to KLF1 mutation, Congenital dyserythropoietic anemia type 4 |
Definition: | A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. |
Ontology: | Human Disease [DOID:0111400] ( DOID:0111400 ) |