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DO Term : primary coenzyme Q10 deficiency 6 [DOID:0070243] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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,
ORDO:280406,
familial steroid-resistant nephrotic syndrome with sensorineural deafness,
OMIM:614650,
614650

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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