| Metadata | |
|---|---|
| ID | DOID:0070245 |
| Name | primary coenzyme Q10 deficiency 8 |
| Definition | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. https://www.ncbi.nlm.nih.gov/pubmed/26084283 |
| Xrefs | |
| Synonyms |
coenzyme Q10 deficiency, primary, 8 [EXACT] COQ10D8 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |