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DO Term : Dravet syndrome [DOID:0080422] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • DOID:0060171,
  • GARD:10430,
  • severe myoclonic epilepsy of infancy,
  • OMIM:607208,
  • ORDO:33069,
  • DEE6,
  • DEE6A,
  • 607208,
  • early infantile epileptic encephalopathy 6,
  • developmental and epileptic encephalopathy 6,
  • developmental and epileptic encephalopathy 6A
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents