| Metadata | |
|---|---|
| ID | DOID:0060065 |
| Name | autosomal recessive pyridoxine-refractory sideroblastic anemia 2 |
| 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. https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive |
| Xrefs | |
| Synonyms |
autosomal recessive pyridoxine-refractory sideroblastic anaemia 2 [EXACT] pyridoxine-refractory autosomal recessive sideroblastic anaemia [EXACT] pyridoxine-refractory autosomal recessive sideroblastic anemia [EXACT] |
| Parent Relationships |
is_a sideroblastic anemia |