combined oxidative phosphorylation deficiency 22

Summary

DOID:0111498 - combined oxidative phosphorylation deficiency 22

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.

Synonyms: COXPD22

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

: atp5f1a

MIM:

MIM:616045 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22

MIM:616045 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22

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

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

Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)