SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
n7 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#
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 n3:DOID_0050807
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0050737
_:vb50937630
n3:DOID_225
rdfs:label
Kahrizi syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0050807
obo:created_by
lschriml
obo:creation_date
2013-12-02T02:28:58Z
obo:hasDbXref
OMIM:612713
ORDO:168972
obo:hasExactSynonym
KHRZ
intellectual disability-cataract-coloboma-kyphosis syndrome
intellectual disability, Kahrizi type
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
Subject Item _:vb50937630
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000148
wdrs:describedby
n7:doid.owl