Term Name: autosomal recessive pyridoxine-refractory sideroblastic anemia 2
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 )

Relationships
is a type of: autosomal recessive disease sideroblastic anemia