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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 26
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Accession:DOID:0080461 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: EIEE26;   KCNB1-related disorder;   epileptic encephalopathy-26
 primary_id: OMIM:616056
 alt_id: RDO:9001455
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early infantile epileptic encephalopathy 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 20 46,761,428 46,885,521 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11860
    syndrome 4625
      electroclinical syndrome 313
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 26 1
Path 2
Term Annotations click to browse term
  disease 11860
    disease of anatomical entity 11513
      nervous system disease 9241
        sensory system disease 4276
          eye and adnexa disease 2095
            eye disease 2095
              visual pathway disease 615
                visual cortex disease 613
                  visual epilepsy 613
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        early infantile epileptic encephalopathy 181
                          early infantile epileptic encephalopathy 26 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.