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DO Term : developmental and epileptic encephalopathy 80 [DOID:0112216] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3.
  • synonyms:
  • early infantile epileptic encephalopathy 80,
  • 618580,
  • glycosylphosphatidylinositol biosynthesis defect 20,
  • DEE80,
  • OMIM:618580,
  • GPIBD20
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Ontology Term --> Direct children

Ontology Term --> Direct parents