About: familial adult myoclonic epilepsy 2

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease familial adult myoclonic epilepsy nodeID://b50945300 nodeID://b50945301
label	familial adult myoclonic epilepsy 2
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111692
database_cross_reference	OMIM:607876
has_exact_synonym	ADCME (en) BAFME2 (en) FAME2 (en) FCMTE2 (en) autosomal dominant cortical myoclonus and epilepsy (en) benign adult familial myoclonic epilepsy 2 (en) familial cortical myoclonic tremor and epilepsy 2 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945302

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