ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 15
go back to main search page
Accession:DOID:0080414 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: EIEE15
 narrow_synonym: EPILEPSY DUE TO PERINATAL STROKE
 primary_id: OMIM:615006
 alt_id: DOID:9003986;   RDO:9000295
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 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      electroclinical syndrome 284
        neonatal period electroclinical syndrome 136
          early infantile epileptic encephalopathy 127
            early infantile epileptic encephalopathy 15 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            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 15 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.