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Summary Literature (0)
DOID:0110847 - xeroderma pigmentosum variant type


Disease Ontology 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.

Synonyms: XPV, photosensitivity with defective DNA synthesis, xeroderma pigmentosum with normal DNA repair rates

Xenbase Genes : polh

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010214 - xeroderma pigmentosum variant type

OMIM:
OMIM:278750 - XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): xeroderma pigmentosum (is_a)