primary coenzyme Q10 deficiency 5

Summary

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

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

: coq9

Mondo Disease Ontology (on Monarch Initiative):

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

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

Other Model Organisms: AGR, 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)