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congenital dyserythropoietic anemia type IIIa (DOID:0111399)
Alliance: disease page
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
Alt IDs: OMIM:105600, ORDO:98870, UMLS_CUI:C0271934
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 (605064) on chromosome 15q23.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory