This HTML5 document contains 17 embedded RDF statements represented using HTML+Microdata notation.

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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_0090048

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050837 _:vb50942159 n2:DOID_0050737

rdfs:label

dystonia 16

wdrs:describedby

n7:doid.owl

obo:id

DOID:0090048

obo:hasDbXref

GARD:10539 ORDO:210571 OMIM:612067 ICD10CM:G24.1

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.

Subject Item

_:vb50942159

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n7:doid.owl