Term Name: | autosomal recessive pyridoxine-refractory sideroblastic anemia 2 |
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Synonyms: | autosomal recessive pyridoxine-refractory sideroblastic anaemia 2, pyridoxine-refractory autosomal recessive sideroblastic anaemia, pyridoxine-refractory autosomal recessive sideroblastic anemia |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060065] ( DOID:0060065 ) |