autosomal recessive pyridoxine-refractory sideroblastic anemia 2

Term ID

DOID:0060065

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. https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive

References

• MIM:205950

Ontology

Human Disease   ( DOID:0060065 )