primary coenzyme Q10 deficiency 1

Summary

DOID:0070238 - primary coenzyme Q10 deficiency 1

Disease Ontology Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.

Synonyms: coenzyme Q deficiency 1, COQ10D1, CoQ10 deficiency, primary, 1, CoQ deficiency 1, ubiquinone deficiency 1

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

: pdss2, coq8a, coq2, pdss1, aptx

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

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

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

Parent(s): coenzyme Q10 deficiency disease (is_a), genetic disease (is_a)