combined oxidative phosphorylation deficiency 6

Summary

DOID:0111502 - combined oxidative phosphorylation deficiency 6

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.

Synonyms: COXPD6, Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6, Mitochondrial encephalomyopathy due to COXPD6, severe X-linked mitochondrial encephalomyopathy

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

: aifm1

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

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

Parent(s): combined oxidative phosphorylation deficiency (is_a)