mitochondrial complex V (ATP synthase) deficiency nuclear type 3

Summary

DOID:0060332 - mitochondrial complex V (ATP synthase) deficiency nuclear type 3

Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.

Synonyms: MC5DN3

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

: atp5f1e

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013547 - mitochondrial complex V (ATP synthase) deficiency nuclear type 3

MONDO:0013547 - mitochondrial complex V (ATP synthase) deficiency nuclear type 3

MIM:

MIM:614053 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3

MIM:614053 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3

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)