| Metadata | |
|---|---|
| ID | DOID:0070238 |
| Name | primary coenzyme Q10 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. https://www.ncbi.nlm.nih.gov/pubmed/19375058 |
| Xrefs | |
| Synonyms |
coenzyme Q deficiency 1 [EXACT] CoQ deficiency 1 [EXACT] CoQ10 deficiency, primary, 1 [EXACT] COQ10D1 [EXACT] ubiquinone deficiency 1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |