DISEASES

Disease-gene associations mined from literature

Human genes for xeroderma pigmentosum variant type

Xeroderma pigmentosum variant type [DOID:0110847]

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.

Synonyms:  xeroderma pigmentosum variant type,  DOID:0110847,  xeroderma pigmentosum variant types,  photosensitivity with defective DNA synthesis,  xeroderma pigmentosum with normal DNA repair rates ...