About: Dravet syndrome

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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 developmental and epileptic encephalopathy nodeID://b50940916
label	Dravet syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080422
has_alternative_id	DOID:0060171
database_cross_reference	GARD:10430 OMIM:607208 ORDO:33069
has_exact_synonym	DEE6 developmental and epileptic encephalopathy 6 early infantile epileptic encephalopathy 6 (en) severe myoclonic epilepsy of infancy
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940917

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