SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
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wdrs http://www.w3.org/2007/05/powder-s#
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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 _:vb50945792
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owl:Axiom
wdrs:describedby
n6:doid.owl
dc:type
n4:ECO_0007645
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n4:IAO_0000115
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n4:DOID_0111946
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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/