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Namespace Prefixes

PrefixIRI
n8https://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#
n6http://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_0060697
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060695 n2:DOID_0050737 _:vb50939223
rdfs:label
hyperekplexia 2
wdrs:describedby
n8:doid.owl
obo:id
DOID:0060697
obo:hasDbXref
ICD10CM:G25.8 OMIM:614619 ORDO:3197
obo:hasExactSynonym
HKPX2
obo:hasOBONamespace
disease_ontology
obo:inSubset
n6:DO_rare_slim
n2:IAO_0000115
A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
Subject Item
_:vb50939223
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n8:doid.owl