This HTML5 document contains 31 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://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
n2:DOID_2217
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 _:vb50950611 _:vb50950612 n2:DOID_1247
rdfs:label
Bernard-Soulier syndrome
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n6:doid.owl
obo:id
DOID:2217
obo:hasDbXref
UMLS_CUI:C0005129 OMIM:231200 ORDO:274 MESH:D001606 SNOMEDCT_US_2021_09_01:54569005 NCI:C84595
obo:hasExactSynonym
Bernard - Soulier thrombopathy Bernard Soulier syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier Giant platelet syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n2:IAO_0000115
A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
Subject Item
_:vb50950611
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50950612
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000007
wdrs:describedby
n6:doid.owl