# xeroderma pigmentosum

> autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair

**Wikidata**: [Q612693](https://www.wikidata.org/wiki/Q612693)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Xeroderma_pigmentosum)  
**Source**: https://4ort.xyz/entity/xeroderma-pigmentosum


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/x.htm)
5. The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity
6. Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy
7. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene
8. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
9. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease
10. Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype
11. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)