Congenital Dyserythropoietic Anemia Type Iiia
Disease ID: disease_node_15272
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| Dbxref | GARD:2002, MIM:105600, ORDO:98870, SNOMEDCT_US_2023_03_01:26409005, UMLS_CUI:C0271934 |
|---|---|
| Subclassof | DOID_0050736, DOID_1338 |
| Data Source | DOID |
| Synonyms | CDA III, CDA type 3, CDA type III, CDAN3, Congenital dyserythropoietic anaemia type 3, Congenital dyserythropoietic anemia type 3, anaemia with multinucleated erythroblasts, anemia with multinucleated erythroblasts, congenital dyserythropoietic anaemia type III, hereditary benign erythroreticulosis |
| Doid Label | congenital dyserythropoietic anemia type IIIa |
| Doid 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15272 |
| Doid Id | DOID_0111399 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Dyserythropoietic Anemia Type Iiia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)