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DO Term : early-onset epilepsy 3 [DOID:0070472] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3.
  • synonyms:
  • EPEO3,
  • OMIM:620465,
  • 620465
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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