SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n5 https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
rdfs http://www.w3.org/2000/01/rdf-schema#
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 n2:DOID_0111059
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2217
_:vb50944149
rdfs:label
Bernard-Soulier syndrome type A2
wdrs:describedby
n5:doid.owl
obo:id
DOID:0111059
obo:hasDbXref
OMIM:153670
obo:hasExactSynonym
BSSA2
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
Subject Item _:vb50944149
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000007
wdrs:describedby
n5:doid.owl