xeroderma pigmentosum variant type Disease Ontology Browser

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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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23

Allelic Composition	Genetic Background	Reference	Phenotypes
Polhtm1Crey/Polhtm1Crey	involves: 129P2/OlaHsd * C57BL/6	J:98037	View
Polhtm1Fmh/Polhtm1Fmh	involves: C57BL/6	J:99721	View
Polhtm1.1Rak/Polhtm1.1Rak	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	J:105034	View