This HTML5 document contains 27 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n6	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#
n7	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_0060013

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_627 n2:DOID_0080012 _:vb50938061

rdfs:label

X-linked severe combined immunodeficiency

rdfs:comment

OMIM mapping confirmed by DO. [LS].

wdrs:describedby

n6:doid.owl

obo:id

DOID:0060013

obo:hasAlternativeId

DOID:5811

obo:hasDbXref

NCI:C4682 SNOMEDCT_US_2021_09_01:203592006 GARD:5618 OMIM:300400 MESH:D053632 UMLS_CUI:C1279481

obo:hasExactSynonym

thymic epithelial hypoplasia X-Linked Severe Combined Immunodeficiency SCID-X1 XSCID gamma chain deficiency

obo:hasOBONamespace

disease_ontology

obo:inSubset

n7:NCIthesaurus

n2:IAO_0000115

A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.

Subject Item

_:vb50938061

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000149

wdrs:describedby

n6:doid.owl