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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#
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_0060591

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 _:vb50939108 n2:DOID_612

rdfs:label

WHIM syndrome

wdrs:describedby

n7:doid.owl

obo:id

DOID:0060591

obo:hasDbXref

MESH:C536697 NCI:C176819 OMIM:193670 SNOMEDCT_US_2021_09_01:234571003 UMLS_CUI:C0472817 GARD:9297

obo:hasExactSynonym

WHIMS warts-hypogammaglobulinemia-infections-myelokathexis syndrome warts, hypogammaglobulinemia, infections, and myelokathexis

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.

Subject Item

_:vb50939108

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n7:doid.owl