ONTOLOGY REPORT - ANNOTATIONS


Term:Dravet syndrome
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Accession:DOID:0080422 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)
Synonyms:exact_synonym: Dravet syndromes;   EIEE6;   SMEI;   early infantile epileptic encephalopathy 6;   severe myoclonic epilepsy in infancy;   severe myoclonic epilepsy of infancy
 primary_id: OMIM:607208
 alt_id: DOID:0060171;   RDO:9002864
 xref: GARD:10430;   ORDO:33069
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Dravet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:7240710
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:7240710
G Snx27 sorting nexin family member 27 JBrowse link 2 195,738,613 195,821,608 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    syndrome 4713
      infancy electroclinical syndrome 153
        Dravet syndrome 4
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
                        Dravet syndrome 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.