Term Name: xeroderma pigmentosum variant type
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 )

Relationships
is a type of: xeroderma pigmentosum