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 all 4 entries
Gene ID Gene Symbol Description Source
1642 DDB1 damage specific DNA binding protein 1
5429 POLH DNA polymerase eta
7014 TERF2 telomeric repeat binding factor 2
7508 XPC XPC complex subunit, DNA damage recognition and repair factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
13194 Ddb1 damage specific DNA binding protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
852028 RAD30 DNA-directed DNA polymerase eta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024