mitochondrial complex V (ATP synthase) deficiency nuclear type 4

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Echinobase

Summary

Literature (0)

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

Echinobase 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:615228 - mitochondrial complex v (atp synthase) deficiency, nuclear type 4; mc5dn4

MIM:615228 - mitochondrial complex v (atp synthase) deficiency, nuclear type 4; mc5dn4

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

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

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