autosomal recessive pyridoxine-refractory sideroblastic anemia 2

Summary

DOID:0060065 - autosomal recessive pyridoxine-refractory sideroblastic anemia 2

Disease Ontology 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.

Synonyms: autosomal recessive pyridoxine-refractory sideroblastic anaemia 2, pyridoxine-refractory autosomal recessive sideroblastic anaemia, pyridoxine-refractory autosomal recessive sideroblastic anemia,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: glrx5, slc25a38

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008785 - sideroblastic anemia 2

MONDO:0008785 - sideroblastic anemia 2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), sideroblastic anemia (is_a)