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Namespace Prefixes

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dc	http://purl.org/dc/elements/1.1/
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

_:vb50942171

rdf:type

owl:Axiom

wdrs:describedby

n3:doid.owl

dc:type

n5:ECO_0007637 n5:ECO_0007636

owl:annotatedProperty

n5:IAO_0000115

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n5:DOID_0090053

owl:annotatedTarget

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.

obo:hasDbXref

url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia url:https://www.omim.org/entry/128200