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Namespace Prefixes

PrefixIRI
n5https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://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
n2:DOID_0111538
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_440 _:vb50945008 _:vb50945009 n2:DOID_0050736
rdfs:label
paramyotonia congenita of Von Eulenburg
wdrs:describedby
n5:doid.owl
obo:id
DOID:0111538
obo:hasDbXref
NCI:C122790 ICD10CM:G71.19 MESH:D020967 SNOMEDCT_US_2021_09_01:41574007 OMIM:168300 UMLS_CUI:C0221055 GARD:7325 ORDO:684
obo:hasExactSynonym
Eulenburg disease paramyotonia congenita PMC paralysis periodica paramyotonica Von Eulenburg paramyotonia congenita myotonia congenita intermittens
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in SCN4A on chromosome 17q23.3.
Subject Item
_:vb50945008
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50945009
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000094
wdrs:describedby
n5:doid.owl