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Namespace Prefixes

Prefix	IRI
n8	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#
n5	http://purl.obolibrary.org/obo/doid#
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_2987

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050739 n2:DOID_417 _:vb50951390 _:vb50951391

rdfs:label

familial Mediterranean fever

rdfs:comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n8:doid.owl

obo:id

DOID:2987

obo:hasDbXref

UMLS_CUI:C0031069 NCI:C84707 SNOMEDCT_US_2021_09_01:12579009 GARD:6421 OMIM:134610 MESH:D010505 ICD9CM:277.31 OMIM:249100 ICD10CM:M04.1 ORDO:342

obo:hasExactSynonym

benign paroxysmal peritonitis

obo:hasOBONamespace

disease_ontology

obo:inSubset

n5:DO_rare_slim n5:NCIthesaurus

n2:IAO_0000115

An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.

Subject Item

_:vb50951390

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000934

wdrs:describedby

n8:doid.owl

Subject Item

_:vb50951391

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0002452

owl:someValuesFrom

n2:SYMP_0000061

wdrs:describedby

n8:doid.owl