This HTML5 document contains 16 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/
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_0090050

rdf:type

owl:Class

rdfs:subClassOf

n3:DOID_0050737 _:vb50942164 n3:DOID_0050838

rdfs:label

dystonia 27

wdrs:describedby

n7:doid.owl

obo:id

DOID:0090050

obo:hasDbXref

ORDO:464440 ICD10CM:G24.1 OMIM:616411

obo:hasOBONamespace

disease_ontology

n3:IAO_0000115

A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.

Subject Item

_:vb50942164

rdf:type

owl:Restriction

owl:onProperty

n3:IDO_0000664

owl:someValuesFrom

n3:GENO_0000148

wdrs:describedby

n7:doid.owl