| Metadata | |
|---|---|
| ID | DOID:0070244 |
| Name | primary coenzyme Q10 deficiency 7 |
| Definition | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. https://www.ncbi.nlm.nih.gov/pubmed/25658047 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
coenzyme Q10 deficiency, primary, 7 [EXACT] COQ10D7 [EXACT] COQ4-related neonatal encephalomyopathy [EXACT] neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [EXACT] |
| Parent Relationships |