Congenital Dyserythropoietic Anemia Type Iva
Disease ID: disease_node_15271
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| Dbxref | MIM:613673, NCI:C157148, ORDO:293825, SNOMEDCT_US_2023_03_01:719453009, UMLS_CUI:C3150926 |
|---|---|
| Subclassof | DOID_0050736, DOID_1338 |
| Data Source | DOID |
| Synonyms | CDA IV, CDA due to KLF1 mutation, CDA type 4, CDA type IV, CDAN4, Congenital dyserythropoietic anaemia due to KLF1 mutation, Congenital dyserythropoietic anaemia type 4, Congenital dyserythropoietic anemia due to KLF1 mutation, Congenital dyserythropoietic anemia type 4, congenital dyserythropoietic anaemia type IV |
| Doid Label | congenital dyserythropoietic anemia type IVa |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15271 |
| Doid Id | DOID_0111400 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Dyserythropoietic Anemia Type Iva |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)