Term Name: | primary coenzyme Q10 deficiency 5 |
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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 ) |