This HTML5 document contains 18 embedded RDF statements represented using HTML+Microdata notation.

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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#
n5	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_5812

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_627

rdfs:label

MHC class II deficiency

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:5812

obo:hasDbXref

UMLS_CUI:C0242583 NCI:C3895 ICD10CM:D81.6 SNOMEDCT_US_2021_09_01:71904008 MESH:D016511 OMIM:209920

obo:hasExactSynonym

SCID due to absent class II HLA antigens bare lymphocyte syndrome type II BLSII

obo:hasOBONamespace

disease_ontology

obo:inSubset

n5:NCIthesaurus

n2:IAO_0000115

A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.