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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 17
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Accession:DOID:0080450 term browser browse the term
Definition:An early infantile epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: EIEE17
 primary_id: OMIM:615473
 alt_id: RDO:9000957
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early infantile epileptic encephalopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAO1 G protein subunit alpha o1 JBrowse link 16 55,606,920 55,776,619 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11860
    syndrome 4626
      electroclinical syndrome 313
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 17 1
Path 2
Term Annotations click to browse term
  disease 11860
    disease of anatomical entity 11514
      nervous system disease 9241
        sensory system disease 4277
          eye and adnexa disease 2096
            eye disease 2096
              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 17 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.