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DO Term : developmental and epileptic encephalopathy 40 [DOID:0080427] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12.
  • synonyms:
  • early infantile epileptic encephalopathy 40,
  • 617065,
  • DEE40,
  • OMIM:617065
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Disease

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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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