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xeroderma pigmentosum variant type
Summary
- Synonym
-
- XPV
- photosensitivity with defective DNA synthesis
- xeroderma pigmentosum with normal DNA repair rates
- 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.
- Super Class
- xeroderma pigmentosum
External Links
- Disease Ontology
- DOID:0110847
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
