# xeroderma pigmentosum group A

> xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22

**Wikidata**: [Q32143704](https://www.wikidata.org/wiki/Q32143704)  
**Source**: https://4ort.xyz/entity/xeroderma-pigmentosum-group-a


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5cd298eb-1e1a-4283-851e-2dd24059ba22--2018-11-02T21:36:51)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd298eb-1e1a-4283-851e-2dd24059ba22-2018-11-02T213651.734Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000136936/MONDO_0010210)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)