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DO Term : developmental and epileptic encephalopathy 6B [DOID:0070379] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe.
  • synonyms:
  • DEE6B,
  • 619317,
  • OMIM:619317
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents