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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 45
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Accession:DOID:0080428 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (DO)
Synonyms:exact_synonym: EIEE45
 primary_id: OMIM:617153
 alt_id: RDO:9001478
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early infantile epileptic encephalopathy 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 JBrowse link 14 38,631,192 39,112,598 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 16021
    syndrome 6144
      electroclinical syndrome 383
        neonatal period electroclinical syndrome 249
          early infantile epileptic encephalopathy 240
            early infantile epileptic encephalopathy 45 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            epilepsy 1345
              electroclinical syndrome 383
                neonatal period electroclinical syndrome 249
                  early infantile epileptic encephalopathy 240
                    early infantile epileptic encephalopathy 45 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.