| Metadata | |
|---|---|
| ID | DOID:0070240 |
| Name | primary coenzyme Q10 deficiency 3 |
| Definition | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/17186472 |
| Xrefs | |
| Synonyms |
coenzyme Q10 deficiency, primary, 3 [EXACT] COQ10D3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |