# primary coenzyme Q10 deficiency 2

> primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1

**Wikidata**: [Q60195089](https://www.wikidata.org/wiki/Q60195089)  
**Source**: https://4ort.xyz/entity/primary-coenzyme-q10-deficiency-2


## References

1. Disease Ontology
2. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000148459/Orphanet_254898)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023