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

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

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

: polh

MIM:

MIM:278750 - xeroderma pigmentosum, variant type; xpv

MIM:278750 - xeroderma pigmentosum, variant type; xpv

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): xeroderma pigmentosum (is_a)