This HTML5 document contains 24 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

PrefixIRI
n5https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0111690
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0111689 n3:DOID_0050736 _:vb50945294 _:vb50945295
rdfs:label
familial adult myoclonic epilepsy 1
wdrs:describedby
n5:doid.owl
obo:id
DOID:0111690
obo:hasDbXref
OMIM:601068
obo:hasExactSynonym
FCMTE1 FAME1 benign adult familial myoclonic epilepsy 1 BAFME1 familial cortical myoclonic tremor and epilepsy 1
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in SAMD12 on chromosome 8q24.11-q24.12.
Subject Item
_:vb50945294
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000147
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50945295
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0002488
owl:someValuesFrom
n3:HP_0003581
wdrs:describedby
n5:doid.owl