Term Name: | X-linked sideroblastic anemia with ataxia |
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Synonyms: | Anemia sideroblastic and spinocerebellar ataxia, Anemia, sideroblastic, spinocerebellar ataxia, X-linked sideroblastic anaemia and ataxia, X-linked sideroblastic anaemia with ataxia, X-linked sideroblastic anemia and ataxia |
Definition: | A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. |
Ontology: | Human Disease [DOID:0050554] ( DOID:0050554 ) |