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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 43
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Accession:DOID:0080447 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (DO)
Synonyms:exact_synonym: EIEE43
 primary_id: OMIM:617113
 alt_id: RDO:9001477
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early infantile epileptic encephalopathy 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 15 26,543,546 26,773,763 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 16438
    syndrome 5508
      electroclinical syndrome 355
        neonatal period electroclinical syndrome 210
          early infantile epileptic encephalopathy 200
            early infantile epileptic encephalopathy 43 1
Path 2
Term Annotations click to browse term
  disease 16438
    disease of anatomical entity 15412
      nervous system disease 11682
        sensory system disease 4895
          eye and adnexa disease 2410
            eye disease 2410
              visual pathway disease 664
                visual cortex disease 662
                  visual epilepsy 662
                    childhood onset epileptic encephalopathy 207
                      Infantile or Early Childhood Epileptic Encephalopathy 203
                        early infantile epileptic encephalopathy 200
                          early infantile epileptic encephalopathy 43 1
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