This HTML5 document contains 21 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

PrefixIRI
n3https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n5http://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#
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
n5:DOID_0090045
rdf:type
owl:Class
rdfs:subClassOf
n5:DOID_543 n5:DOID_0050736 _:vb50942151 _:vb50942152
rdfs:label
childhood onset GLUT1 deficiency syndrome 2
wdrs:describedby
n3:doid.owl
obo:id
DOID:0090045
obo:hasDbXref
OMIM:612126 ORDO:98811 ICD10CM:G24.8
obo:hasOBONamespace
disease_ontology
n5:IAO_0000115
A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
Subject Item
_:vb50942151
rdf:type
owl:Restriction
owl:onProperty
n5:IDO_0000664
owl:someValuesFrom
n5:GENO_0000147
wdrs:describedby
n3:doid.owl
Subject Item
_:vb50942152
rdf:type
owl:Restriction
owl:onProperty
n5:RO_0002488
owl:someValuesFrom
n5:HP_0011463
wdrs:describedby
n3:doid.owl