Search Ontology:
Human Disease

xeroderma pigmentosum variant type

Term ID
DOID:0110847
Synonyms
  • photosensitivity with defective DNA synthesis
  • xeroderma pigmentosum with normal DNA repair rates
  • XPV
Definition
A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. (2)
References
Ontology
Human Disease   ( DOID:0110847 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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