mitochondrial complex V (ATP synthase) deficiency nuclear type 1

Summary

DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency nuclear type 1

Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.

Synonyms: MC5DN1

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

: atpaf2, tmem70

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011421 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

MONDO:0011421 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

MIM:

MIM:604273 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

MIM:604273 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

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)