| Metadata | |
|---|---|
| ID | DOID:0060063 |
| Name | sideroblastic anemia 1 |
| Definition | 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. https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
sideroblastic anaemia 1 [EXACT] X-linked sideroblastic anaemia [EXACT] X-linked sideroblastic anemia [EXACT] XLSA [EXACT] |
| Parent Relationships |
is_a sideroblastic anemia |