X-linked sideroblastic anemia with ataxia

Summary

DOID:0050554 - X-linked sideroblastic anemia with ataxia

Disease Ontology Definition:A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.

Synonyms: Anemia sideroblastic and spinocerebellar ataxia, X-linked sideroblastic anemia and ataxia, Anemia, sideroblastic, spinocerebellar ataxia, X-linked sideroblastic anaemia and ataxia, X-linked sideroblastic anaemia with ataxia

Echinobase 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

: abcb7

MIM:

MIM:301310 - anemia, sideroblastic, and spinocerebellar ataxia; asat

MIM:301310 - anemia, sideroblastic, and spinocerebellar ataxia; asat

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

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

Parent(s): sideroblastic anemia (is_a), X-linked recessive disease (is_a)