primary coenzyme Q10 deficiency 2

Summary

DOID:0070239 - primary coenzyme Q10 deficiency 2

Disease Ontology Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.

Synonyms: coenzyme Q10 deficiency, primary, 2, COQ10D2, deafness-encephaloneuropathy-obesity-valvulopathy syndrome, hearing loss-encephaloneuropathy-obesity-valvulopathy 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

: pdss1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome

MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome

MIM:

MIM:614651 - COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2

MIM:614651 - COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2

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)