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Namespace Prefixes

Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
dc	http://purl.org/dc/elements/1.1/
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

_:vb50955281

rdf:type

owl:Axiom

wdrs:describedby

n6:doid.owl

dc:type

n3:ECO_0007645

owl:annotatedProperty

n3:IAO_0000115

owl:annotatedSource

n3:DOID_7400

owl:annotatedTarget

A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/3277755 url:https://www.ncbi.nlm.nih.gov/pubmed/9042920