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DO Term : developmental and epileptic encephalopathy 56 [DOID:0080282] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.
  • synonyms:
  • OMIM:617665,
  • 617665,
  • early infantile epileptic encephalopathy 56,
  • DEE56
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents