| Metadata | |
|---|---|
| ID | DOID:0110847 |
| Name | xeroderma pigmentosum variant type |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10385124, https://www.ncbi.nlm.nih.gov/pubmed/1054497 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
photosensitivity with defective DNA synthesis [EXACT] xeroderma pigmentosum with normal DNA repair rates [EXACT] XPV [EXACT] |
| Parent Relationships |