primary coenzyme Q10 deficiency 6

Summary

DOID:0070243 - primary coenzyme Q10 deficiency 6

Disease Ontology Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.

Synonyms: COQ10D6, coenzyme Q10 deficiency, primary, 6, familial steroid-resistant nephrotic syndrome with sensorineural deafness,

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

: coq6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

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)