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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 beta1 subunit JBrowse link NW_004936482 13,219,962 13,593,868 RGD:7240710

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Term Annotations click to browse term
  disease 11879
    syndrome 5283
      electroclinical syndrome 355
        neonatal period electroclinical syndrome 243
          early infantile epileptic encephalopathy 234
            early infantile epileptic encephalopathy 45 1
Path 2
Term Annotations click to browse term
  disease 11879
    disease of anatomical entity 11444
      nervous system disease 9331
        central nervous system disease 7822
          brain disease 7189
            epilepsy 1233
              electroclinical syndrome 355
                neonatal period electroclinical syndrome 243
                  early infantile epileptic encephalopathy 234
                    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.