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Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n4http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
dchttp://purl.org/dc/elements/1.1/
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
_:vb50945792
rdf:type
owl:Axiom
wdrs:describedby
n6:doid.owl
dc:type
n4:ECO_0007645
owl:annotatedProperty
n4:IAO_0000115
owl:annotatedSource
n4:DOID_0111946
owl:annotatedTarget
A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2.
obo:hasDbXref
url:https://pubmed.ncbi.nlm.nih.gov/21714643/ url:https://pubmed.ncbi.nlm.nih.gov/23541320/ url:https://pubmed.ncbi.nlm.nih.gov/23534974/