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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

OMIM:205950

Synonyms

pyridoxine-refractory autosomal recessive sideroblastic anemia [EXACT]

Parent Relationships

is_a sideroblastic anemia

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