ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 57
go back to main search page
Accession:DOID:0080284 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. (DO)
Synonyms:exact_synonym: EIEE57
 primary_id: OMIM:617771
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
early infantile epileptic encephalopathy 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt2 potassium sodium-activated channel subfamily T member 2 JBrowse link 13 57,130,855 57,520,263 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    syndrome 4713
      electroclinical syndrome 284
        neonatal period electroclinical syndrome 136
          early infantile epileptic encephalopathy 127
            early infantile epileptic encephalopathy 57 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        central nervous system disease 6945
          brain disease 6451
            epilepsy 1021
              electroclinical syndrome 284
                infancy electroclinical syndrome 153
                  West syndrome 153
                    Infantile or Early Childhood Epileptic Encephalopathy 130
                      early infantile epileptic encephalopathy 127
                        early infantile epileptic encephalopathy 57 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.