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DO Term : primary coenzyme Q10 deficiency 2 [DOID:0070239] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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,
hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome,
614651,
COQ10D2,
ORDO:254898,
OMIM:614651,
deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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