Summary Literature (0)

DOID:0050730 - coenzyme Q10 deficiency disease

Disease Ontology Definition:A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.

Synonyms: COENZYME Q10 DEFICIENCY, PRIMARY

Xenbase Genes : coq7, pdss2, coq6, coq8a, coq9, coq2, pdss1, aptx, coq4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018151 - skin of upper lip

MIM:

MIM:607426 - COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

MIM:612016 - COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4

MIM:614650 - COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6

MIM:614654 - COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5

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

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