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Namespace Prefixes

Prefix	IRI
n5	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_0110847

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050427

rdfs:label

xeroderma pigmentosum variant type

wdrs:describedby

n5:doid.owl

obo:id

DOID:0110847

obo:hasDbXref

GARD:5630 OMIM:278750 ICD10CM:Q82.1

obo:hasExactSynonym

xeroderma pigmentosum with normal DNA repair rates XPV photosensitivity with defective DNA synthesis

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

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.