| Metadata | |
|---|---|
| ID | DOID:0070239 |
| Name | primary coenzyme Q10 deficiency 2 |
| Definition | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/17332895 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
coenzyme Q10 deficiency, primary, 2 [EXACT] COQ10D2 [EXACT] deafness-encephaloneuropathy-obesity-valvulopathy syndrome [EXACT] hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |