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/
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_0090053
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_543
_:vb50942170
n2:DOID_0050736
rdfs:label
episodic kinesigenic dyskinesia 1
wdrs:describedby
n7:doid.owl
obo:id
DOID:0090053
obo:hasDbXref
ORDO:98809
OMIM:128200
GARD:8721
ICD10CM:G24.8
obo:hasExactSynonym
Paroxysmal kinesigenic choreoathetosis
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.
Subject Item _:vb50942170
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl