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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 Uba5 ubiquitin-like modifier activating enzyme 5 JBrowse link 8 112,578,607 112,594,192 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      electroclinical syndrome 333
        neonatal period electroclinical syndrome 190
          early infantile epileptic encephalopathy 181
            early infantile epileptic encephalopathy 44 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          eye and adnexa disease 2253
            eye disease 2253
              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 44 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.