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DO Term : developmental and epileptic encephalopathy 78 [DOID:0112214] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.
  • synonyms:
  • DEE78,
  • OMIM:618557,
  • 618557,
  • early infantile epileptic encephalopathy 78
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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