This HTML5 document contains 19 embedded RDF statements represented using HTML+Microdata notation.

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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_0111938
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 _:vb50945775 n2:DOID_627
rdfs:label
immunodeficiency 24
wdrs:describedby
n6:doid.owl
obo:id
DOID:0111938
obo:hasDbXref
UMLS_CUI:C4014617 OMIM:615897 ORDO:420573
obo:hasExactSynonym
IMD24 severe combined immunodeficiency due to CTPS1 deficiency SCID due to CTPS1 deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2.
Subject Item
_:vb50945775
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl