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Namespace Prefixes

PrefixIRI
n5https://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_0080163
rdf:type
owl:Class
rdfs:subClassOf
_:vb50940513 n2:DOID_2914 n2:DOID_0050737
rdfs:label
otulipenia
wdrs:describedby
n5:doid.owl
obo:id
DOID:0080163
obo:hasDbXref
GARD:13198 OMIM:617099
obo:hasExactSynonym
autoinflammation, panniculitis and dermatosis syndrome otulin-related autoinflammatory syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15.
Subject Item
_:vb50940513
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n5:doid.owl