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Disease Ontology Browser
xeroderma pigmentosum variant type (DOID:0110847)
Alliance: disease page
Synonyms: photosensitivity with defective DNA synthesis; xeroderma pigmentosum with normal DNA repair rates; XPV
Alt IDs: OMIM:278750, ICD10CM:Q82.1, MESH:C536766
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.13
The Jackson Laboratory