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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 25
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Accession:DOID:0080453 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: EIEE25
 primary_id: OMIM:615905
 alt_id: RDO:9001454
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early infantile epileptic encephalopathy 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:8554872
G LOC100912483 uncharacterized LOC100912483 JBrowse link 10 58,784,444 58,787,713 RGD:8554872
G Med31 mediator complex subunit 31 JBrowse link 10 58,780,987 58,784,369 RGD:8554872
G Pimreg PICALM interacting mitotic regulator JBrowse link 10 58,613,588 58,618,524 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:8554872
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Slc13a5 solute carrier family 13 member 5 JBrowse link 10 58,806,581 58,835,549 RGD:8554872
RGD:7240710
G Txndc17 thioredoxin domain containing 17 JBrowse link 10 58,776,792 58,779,764 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 25 8
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 25 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.