xeroderma pigmentosum variant type

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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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: polh

OMIM:

MIM:278750 - xeroderma pigmentosum, variant type; xpv

MIM: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)