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autosomal recessive pyridoxine-refractory sideroblastic anemia 2

Go to external page http://purl.obolibrary.org/obo/DOID_0060065

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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

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
database cross reference
comment

OMIM mapping confirmed by DO. [LS].

has obo namespace

disease_ontology

id

DOID:0060065