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ONTOLOGY REPORT - ANNOTATIONS


Term:Early Infantile Epileptic Encephalopathy, 72
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Accession:DOID:9007894 term browser browse the term
Definition:EIEE72 is caused by heterozygous mutation in the NEUROD2 gene on chromosome 17q12. (OMIM)
Synonyms:exact_synonym: EIEE72
 primary_id: OMIM:618374
For additional species annotation, visit the Alliance of Genome Resources.


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Early Infantile Epileptic Encephalopathy, 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neurod2 neuronal differentiation 2 JBrowse link 10 86,280,865 86,282,681 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      electroclinical syndrome 332
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            Early Infantile Epileptic Encephalopathy, 72 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              visual pathway disease 649
                visual cortex disease 647
                  visual epilepsy 647
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        early infantile epileptic encephalopathy 181
                          Early Infantile Epileptic Encephalopathy, 72 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.