Summary Literature (0)

DOID:0070242 - primary coenzyme Q10 deficiency 5

Disease Ontology Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.

Synonyms: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, coenzyme Q10 deficiency, primary, 5, COQ10D5

Xenbase Genes : coq9

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013840 - encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

MIM:

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