| Metadata | |
|---|---|
| ID | DOID:0070243 |
| Name | primary coenzyme Q10 deficiency 6 |
| Definition | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/21540551 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
coenzyme Q10 deficiency, primary, 6 [EXACT] COQ10D6 [EXACT] familial steroid-resistant nephrotic syndrome with sensorineural deafness [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |