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primary coenzyme Q10 deficiency 5
Summary
- Synonym
-
- COQ10D5
- coenzyme Q10 deficiency, primary, 5
- 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.
- Super Class
- coenzyme Q10 deficiency disease
External Links
- Disease Ontology
- DOID:0070242
- Mondo Disease Ontology
- ORDO
- OMIM
- WikiPathways (from TogoID)
