This HTML5 document contains 26 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

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_0111692

rdf:type

owl:Class

rdfs:subClassOf

n3:DOID_0111689 _:vb50945300 _:vb50945301 n3:DOID_0050736

rdfs:label

familial adult myoclonic epilepsy 2

wdrs:describedby

n7:doid.owl

obo:id

DOID:0111692

obo:hasDbXref

OMIM:607876

obo:hasExactSynonym

BAFME2 benign adult familial myoclonic epilepsy 2 ADCME FAME2 autosomal dominant cortical myoclonus and epilepsy FCMTE2 familial cortical myoclonic tremor and epilepsy 2

obo:hasOBONamespace

disease_ontology

n3:IAO_0000115

A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.

Subject Item

_:vb50945300

rdf:type

owl:Restriction

owl:onProperty

n3:IDO_0000664

owl:someValuesFrom

n3:GENO_0000147

wdrs:describedby

n7:doid.owl

Subject Item

_:vb50945301

rdf:type

owl:Restriction

owl:onProperty

n3:RO_0002488

owl:someValuesFrom

n3:HP_0003581

wdrs:describedby

n7:doid.owl