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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_0090110
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_417 _:vb50942273 _:vb50942274 n2:DOID_0080012
rdfs:label
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0090110
obo:hasDbXref
ICD10CM:E31.0 OMIM:304790 GARD:1850 ORDO:37042
obo:hasExactSynonym
XLAAD IDDM-secretory diarrhea syndrome immunodeficiency, polyendocrinopathy, and enteropathy, X-linked Autoimmune enteropathy type 1 diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea autoimmunity-immunodeficiency syndrome, X-linked XPID immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked X-linked autoimmunity-allergic dysregulation syndrome IPEX DMSD
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
Subject Item
_:vb50942273
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000149
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50942274
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000570
wdrs:describedby
n7:doid.owl