# xeroderma pigmentosum variant type

> subtype of xeroderma pigmentosum

**Wikidata**: [Q32143762](https://www.wikidata.org/wiki/Q32143762)  
**Source**: https://4ort.xyz/entity/xeroderma-pigmentosum-variant-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/bdb29404-0c05-4519-b6ee-8591368ad1ff--2018-11-02T21:58:46)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdb29404-0c05-4519-b6ee-8591368ad1ff-2018-11-02T215846.146Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000170734/MONDO_0010214)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000170734/Orphanet_90342)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)