OBO ID: DOID:0110846
Term Name: xeroderma pigmentosum group E Search Ontology:
Synonyms:
  • xeroderma pigmentosum V
  • XP group E
  • XP5
  • XPE
Definition: A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. (2)
References:
Ontology: Human Disease   ( DOID:0110846 )
Relationships
is a type of:
OTHER xeroderma pigmentosum group E PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype 278740
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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