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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0110843
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050427
rdfs:label
xeroderma pigmentosum group A
wdrs:describedby
n7:doid.owl
obo:id
DOID:0110843
obo:hasDbXref
ICD10CM:Q82.1 OMIM:278700
obo:hasExactSynonym
XP1 XPA xeroderma pigmentosum complementation group A xeroderma pigmentosum 1 XP group A
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.