xeroderma pigmentosum group D

Summary
Synonym
  • XP group D
  • XP group H
  • XP4
  • XP8
  • XPD
  • XPDC
  • XPH
  • xeroderma pigmentosum IV
  • xeroderma pigmentosum VIII
Definition
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
Super Class
xeroderma pigmentosum
External Links
Disease Ontology
DOID:0110845
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 22 of 22 in total
Gene ID Gene Symbol Description Source
56886 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
64132 XYLT2 xylosyltransferase 2

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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: August 19, 2024