Term Name: primary coenzyme Q10 deficiency 1
Synonyms: coenzyme Q deficiency 1, CoQ deficiency 1, CoQ10 deficiency, primary, 1, COQ10D1, ubiquinone deficiency 1
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.
Ontology: Human Disease [DOID:0070238]   ( DOID:0070238 )

Relationships
is a type of: coenzyme Q10 deficiency disease