xeroderma pigmentosum

Summary
Definition
A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:0050427
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7508 XPC XPC complex subunit, DNA damage recognition and repair factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
852028 RAD30 DNA-directed DNA polymerase eta
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q01831 DNA repair protein complementing XP-C cells
Displaying 1 entry
UniProt ID Protein Name Source
Q04049 DNA polymerase eta

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025