OBO ID: DOID:0110845
Term Name: xeroderma pigmentosum group D Search Ontology:
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 xeroderma pigmentosum group D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERCC2 Xeroderma pigmentosum, group D 278730
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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