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DO Term : developmental and epileptic encephalopathy 52 [DOID:0080455] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
  • synonyms:
  • 617350,
  • OMIM:617350,
  • early infantile epileptic encephalopathy 52,
  • DEE52
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents