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ONTOLOGY REPORT - ANNOTATIONS


Term:Early Infantile Epileptic Encephalopathy, 73
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Accession:DOID:9008849 term browser browse the term
Definition:EIEE73 is caused by heterozygous mutation in the RNF13 gene on chromosome 3q25. (OMIM)
Synonyms:exact_synonym: EIEE73
 primary_id: OMIM:618379
For additional species annotation, visit the Alliance of Genome Resources.


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Early Infantile Epileptic Encephalopathy, 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf13 ring finger protein 13 JBrowse link 2 147,853,423 147,948,277 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      electroclinical syndrome 329
        neonatal period electroclinical syndrome 188
          early infantile epileptic encephalopathy 179
            Early Infantile Epileptic Encephalopathy, 73 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              visual pathway disease 645
                visual cortex disease 643
                  visual epilepsy 643
                    childhood onset epileptic encephalopathy 186
                      Infantile or Early Childhood Epileptic Encephalopathy 182
                        early infantile epileptic encephalopathy 179
                          Early Infantile Epileptic Encephalopathy, 73 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.