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primary coenzyme Q10 deficiency 1
Summary
- Synonym
-
- COQ10D1
- CoQ deficiency 1
- CoQ10 deficiency, primary, 1
- coenzyme Q deficiency 1
- 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.
- Super Class
- coenzyme Q10 deficiency disease
External Links
- Disease Ontology
- DOID:0070238
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
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