|  Help  |  About  |  Contact Us

DO Term : developmental and epileptic encephalopathy 46 [DOID:0080456] 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 intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
  • synonyms:
  • DEE46,
  • 617162,
  • early infantile epileptic encephalopathy 46,
  • OMIM:617162
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