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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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#
n8http://purl.obolibrary.org/obo/doid#
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
n3:DOID_7400
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0050737 _:vb50955280 n3:DOID_225
rdfs:label
Nijmegen breakage syndrome
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n7:doid.owl
obo:id
DOID:7400
obo:hasDbXref
MESH:D049932 UMLS_CUI:C0398791 GARD:3904 SNOMEDCT_US_2021_09_01:234638009 ORDO:647 NCI:C4692 OMIM:251260
obo:hasExactSynonym
ataxia-telangiectasia variant Microcephaly, normal intelligence and immunodeficiency Seemanova syndrome type 2 Seemanova syndrome II microcephaly-immunodeficiency-lymphoreticuloma syndrome NBS immunodeficiency-microcephaly-chromosomal instability syndrome Berlin breakage syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n3:IAO_0000115
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.
Subject Item
_:vb50955280
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000148
wdrs:describedby
n7:doid.owl