Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2
Disease ID: disease_node_15252
Connections displayed (default: 10).
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| Dbxref | MIM:205950 |
|---|---|
| Subclassof | DOID_0050737, DOID_8955 |
| Data Source | DOID |
| Synonyms | autosomal recessive pyridoxine-refractory sideroblastic anaemia 2, pyridoxine-refractory autosomal recessive sideroblastic anaemia, pyridoxine-refractory autosomal recessive sideroblastic anemia |
| Doid Label | autosomal recessive pyridoxine-refractory sideroblastic anemia 2 |
| Doid Description | A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. OMIM mapping confirmed by DO. [LS]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15252 |
| Doid Id | DOID_0060065 |
| Label | Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Anemia, Sideroblastic(ID:disease_node_1208) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)