ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 59
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Accession:DOID:0080291 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: EIEE59
 primary_id: OMIM:617904
 alt_id: DOID:9009144
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early infantile epileptic encephalopathy 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 5 62,276,100 62,621,737 RGD:8554872
RGD:7240710

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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 59 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 59 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.