Term Name: primary coenzyme Q10 deficiency 5
Synonyms: coenzyme Q10 deficiency, primary, 5, COQ10D5, encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.
Ontology: Human Disease [DOID:0070242]   ( DOID:0070242 )

Relationships
is a type of: coenzyme Q10 deficiency disease