Term Name: | xeroderma pigmentosum variant type |
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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. |
Ontology: | Human Disease [DOID:0110847] ( DOID:0110847 ) |