Congenital Dyserythropoietic Anemia Type Iiib
Disease ID: disease_node_15276
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:619789 |
|---|---|
| Subclassof | DOID_0050737, DOID_1338 |
| Data Source | DOID |
| Doid Label | congenital dyserythropoietic anemia type IIIb |
| Doid Description | A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15276 |
| Doid Id | DOID_0051001 |
| Label | Congenital Dyserythropoietic Anemia Type Iiib |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)