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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 44
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Accession:DOID:0080424 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. (DO)
Synonyms:exact_synonym: EIEE44
 primary_id: OMIM:617132
 alt_id: RDO:9001287
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early infantile epileptic encephalopathy 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) JBrowse link 3 132,558,138 132,722,459 RGD:8554872
G UBA5 ubiquitin like modifier activating enzyme 5 JBrowse link 3 132,654,446 132,679,786 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 16438
    syndrome 5509
      electroclinical syndrome 356
        neonatal period electroclinical syndrome 210
          early infantile epileptic encephalopathy 200
            early infantile epileptic encephalopathy 44 2
Path 2
Term Annotations click to browse term
  disease 16438
    disease of anatomical entity 15414
      nervous system disease 11682
        sensory system disease 4896
          eye and adnexa disease 2411
            eye disease 2411
              visual pathway disease 664
                visual cortex disease 662
                  visual epilepsy 662
                    childhood onset epileptic encephalopathy 207
                      Infantile or Early Childhood Epileptic Encephalopathy 203
                        early infantile epileptic encephalopathy 200
                          early infantile epileptic encephalopathy 44 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.