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DO Term : developmental and epileptic encephalopathy 105 [DOID:0070391] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.
  • synonyms:
  • OMIM:619983,
  • early infantile epileptic encephalopathy 105,
  • DEE105,
  • 619983
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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents