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Namespace Prefixes

PrefixIRI
n6https://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_0090018
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 n2:DOID_612 _:vb50942062
rdfs:label
autosomal dominant familial periodic fever
wdrs:describedby
n6:doid.owl
obo:id
DOID:0090018
obo:hasDbXref
OMIM:142680 ICD10CM:E85.0 GARD:8457 ORDO:32960
obo:hasExactSynonym
tumor necrosis factor receptor 1 associated periodic syndrome TNF receptor 1-associated periodic syndrome familial Hibernian fever
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.
Subject Item
_:vb50942062
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n6:doid.owl