# primary coenzyme Q10 deficiency 5

> primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ9 on chromosome 16q21

**Wikidata**: [Q60195093](https://www.wikidata.org/wiki/Q60195093)  
**Source**: https://4ort.xyz/entity/primary-coenzyme-q10-deficiency-5


## References

1. Disease Ontology
2. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000088682/Orphanet_319678)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023