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DO Term : developmental and epileptic encephalopathy 1 [DOID:0080468] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.
  • synonyms:
  • 308350,
  • early infantile epileptic encephalopathy 1,
  • DEE1,
  • OMIM:308350,
  • X-linked infantile spasm syndrome 1
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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents