|  Help  |  About  |  Contact Us

DO Term : developmental and epileptic encephalopathy 104 [DOID:0070390] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.
  • synonyms:
  • DEE104,
  • OMIM:619970,
  • early infantile epileptic encephalopathy 104,
  • 619970
Quick Links:
 
Quick Links:
 

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