SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n7 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#
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_0111977
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737
_:vb50945848
n2:DOID_11200
rdfs:label
immunodeficiency 7
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111977
obo:hasDbXref
ORDO:397959
UMLS_CUI:C3809332
OMIM:615387
obo:hasExactSynonym
IMD7
TCR-alpha-beta-positive T-cell deficiency
immunodeficiency 7, TCR-alpha/beta deficient
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in TRAC on chromosome 14q11.2.
Subject Item _:vb50945848
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl