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DO Term : developmental and epileptic encephalopathy 58 [DOID:0080285] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21.
  • synonyms:
  • OMIM:617830,
  • 617830,
  • early infantile epileptic encephalopathy 58,
  • DEE58
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents