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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_0111947
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 n2:DOID_612 _:vb50945793
rdfs:label
immunodeficiency 21
wdrs:describedby
n6:doid.owl
obo:id
DOID:0111947
obo:hasDbXref
GARD:10934 ORDO:228423 MESH:D000077428 SNOMEDCT_US_2020_03_01:778024005 NCI:C126349 OMIM:614172
obo:hasExactSynonym
IMD21 dendritic cell, monocyte, B and NK lymphoid deficiency DCML monocyte-B-natural killer-dendritic cell deficiency syndrome GATA2 deficiency MonoMAC monocytopenia and mycobacterial infection syndrome combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections monocytopenia with susceptibility to infections
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in GATA2 on chromosome 3q21.3.
Subject Item
_:vb50945793
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n6:doid.owl