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DO Term : developmental and epileptic encephalopathy 92 [DOID:0080471] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
  • synonyms:
  • 617829,
  • OMIM:617829
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents