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DO Term : developmental and epileptic encephalopathy 91 [DOID:0080472] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.
  • synonyms:
  • 617711,
  • infantile or early childhood epileptic encephalopathy 1,
  • OMIM:617711
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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