| Metadata | |
|---|---|
| ID | DOID:0070242 |
| Name | primary coenzyme Q10 deficiency 5 |
| Definition | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/19375058 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
coenzyme Q10 deficiency, primary, 5 [EXACT] COQ10D5 [EXACT] encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |