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DO Term : developmental and epileptic encephalopathy 31A [DOID:0080437] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
  • synonyms:
  • DEE31A,
  • DEE31,
  • developmental and epileptic encephalopathy 31,
  • early infantile epileptic encephalopathy 31,
  • OMIM:616346,
  • 616346
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents