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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_0111970
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0080710 _:vb50945834 n2:DOID_0050737
rdfs:label
immunodeficiency 10
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111970
obo:hasDbXref
OMIM:612783 UMLS_CUI:C2748557 MESH:C557827 ORDO:317430
obo:hasExactSynonym
CID due to STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2 IMD10 STIM1 deficiency combined immunodeficiency due to STIM1 deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4.
Subject Item
_:vb50945834
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl