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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 (GABA) A receptor, subunit beta 3 JBrowse link 7 57,590,518 57,828,802 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 12526
    syndrome 4811
      electroclinical syndrome 323
        neonatal period electroclinical syndrome 194
          early infantile epileptic encephalopathy 185
            early infantile epileptic encephalopathy 43 1
Path 2
Term Annotations click to browse term
  disease 12526
    disease of anatomical entity 12146
      nervous system disease 9643
        sensory system disease 4458
          eye and adnexa disease 2197
            eye disease 2197
              visual pathway disease 634
                visual cortex disease 632
                  visual epilepsy 632
                    childhood onset epileptic encephalopathy 192
                      Infantile or Early Childhood Epileptic Encephalopathy 188
                        early infantile epileptic encephalopathy 185
                          early infantile epileptic encephalopathy 43 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.