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DO Term : developmental and epileptic encephalopathy 100 [DOID:0070386] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42.
  • synonyms:
  • 619777,
  • DEE100,
  • early infantile epileptic encephalopathy 100,
  • OMIM:619777
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Disease

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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents