primary coenzyme Q10 deficiency 4

Summary

DOID:0070241 - primary coenzyme Q10 deficiency 4

Disease Ontology Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13.

Synonyms: coenzyme Q10 deficiency, primary, 4, COQ10D4, SCAR9, spinocerebellar ataxia, autosomal recessive 9

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

: coq8a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

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)