Sideroblastic Anemia 1
Disease ID: disease_node_15253
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| Dbxref | GARD:9456, MIM:300751 |
|---|---|
| Subclassof | DOID_0080012, DOID_8955 |
| Data Source | DOID |
| Synonyms | X-linked sideroblastic anaemia, X-linked sideroblastic anemia, XLSA, sideroblastic anaemia 1 |
| Doid Label | sideroblastic anemia 1 |
| Doid Description | A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. OMIM mapping confirmed by DO. [LS]. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_15253 |
| Doid Id | DOID_0060063 |
| Label | Sideroblastic Anemia 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Anemia, Sideroblastic(ID:disease_node_1208) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)