Preferred Name |
XERODERMA PIGMENTOSUM, VARIANT TYPE |
Synonyms |
XPV |
ID |
http://purl.bioontology.org/ontology/OMIM/278750 |
altLabel |
XPV XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS |
cui |
C1848410 |
Gene Locus |
6p21.1-p12 |
Gene Symbol |
XPV POLH |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
278750 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
XERODERMA PIGMENTOSUM, VARIANT TYPE |
tui |
T047 |