primary coenzyme Q10 deficiency 7

Summary

DOID:0070244 - primary coenzyme Q10 deficiency 7

Disease Ontology Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.

Synonyms: coenzyme Q10 deficiency, primary, 7, COQ10D7, COQ4-related neonatal encephalomyopathy, neonatal encephalomyopathy-cardiomyopathy-respiratory distress 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

: coq4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014562 - neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

MONDO:0014562 - neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

MIM:

MIM:616276 - COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7

MIM:616276 - COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7

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)