mitochondrial complex V (ATP synthase) deficiency nuclear type 4

Summary

DOID:0060333 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4

Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1.

Synonyms: MC5DN4

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014091 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4B

MONDO:0014091 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4B

MIM:

MIM:615228 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B; MC5DN4B

MIM:615228 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B; MC5DN4B

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

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

Parent(s): genetic disease (is_a), mitochondrial complex V (ATP synthase) deficiency (is_a)