Search Ontology:
Human Disease

xeroderma pigmentosum group D

Term ID
DOID:0110845
Synonyms
  • xeroderma pigmentosum IV
  • xeroderma pigmentosum VIII
  • XP group D
  • XP group H
  • XP4
  • XP8
  • XPD
  • XPDC
  • XPH
Definition
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/7849702
References
Ontology
Human Disease   ( DOID:0110845 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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