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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 1
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Accession:DOID:0080468 term browser browse the term
Definition:An early infantile epileptic encephalopathy characterized by X-linked recessive inheritance that has_material_basis_in mutation in the ARX gene on chromosome Xp21. (DO)
Synonyms:exact_synonym: EIEE1;   ISSX1;   X-linked Ohtahara syndrome;   X-linked West syndrome;   X-linked infantile spasm syndrome;   X-linked infantile spasm syndrome, 1;   X-linked infantile spasms;   XMESID;   early infantile epileptic encephalopathy;   infantile epileptic-dyskinetic encephalopathy
 primary_id: MESH:C567924
 alt_id: OMIM:308350;   RDO:0004590;   RDO:0015774
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early infantile epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars1 alanyl-tRNA synthetase 1 JBrowse link NW_004936475 23,268,613 23,294,236 RGD:9068941
G Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link NW_004936499 3,558,273 3,629,570 RGD:9068941
G Arx aristaless related homeobox JBrowse link NW_004936836 295,090 306,756 RGD:7240710
RGD:9068941
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link NW_004936659 2,201,606 2,269,625 RGD:9068941
G Gabrb3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link NW_004936471 39,791,633 40,193,049 RGD:9068941
G Gnao1 G protein subunit alpha o1 JBrowse link NW_004936475 8,610,123 8,681,606 RGD:9068941
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link NW_004936480 17,051,902 17,416,335 RGD:9068941
G Nrxn2 neurexin 2 JBrowse link NW_004936599 4,592,411 4,692,866 RGD:9068941
G Plcb1 phospholipase C beta 1 JBrowse link NW_004936485 10,548,966 11,254,139 RGD:9068941
G Pola1 DNA polymerase alpha 1, catalytic subunit JBrowse link NW_004936836 1,151 287,438 RGD:9068941
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link NW_004936469 13,194,769 13,345,979 RGD:9068941
G Slc35a2 solute carrier family 35 member A2 JBrowse link NW_004936721 830,067 838,783 RGD:9068941
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link NW_004936474 25,058,892 25,248,378 RGD:9068941
G Synj1 synaptojanin 1 JBrowse link NW_004936500 9,484,571 9,565,980 RGD:9068941
G Szt2 SZT2 subunit KICSTOR complex JBrowse link NW_004936474 24,788,175 24,837,471 RGD:9068941
G Tbc1d24 TBC1 domain family member 24 JBrowse link NW_004936694 1,556,717 1,582,019 RGD:9068941
G Wwox WW domain containing oxidoreductase JBrowse link NW_004936475 26,342,245 27,209,563 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11372
    syndrome 4475
      electroclinical syndrome 309
        infantile or early childhood epileptic encephalopathy 1 18
          early infantile epileptic encephalopathy 1 17
Path 2
Term Annotations click to browse term
  disease 11372
    disease of anatomical entity 11041
      nervous system disease 8881
        sensory system disease 4181
          eye and adnexa disease 2060
            eye disease 2060
              visual pathway disease 605
                visual cortex disease 603
                  visual epilepsy 603
                    childhood onset epileptic encephalopathy 184
                      Infantile or Early Childhood Epileptic Encephalopathy 180
                        early infantile epileptic encephalopathy 177
                          early infantile epileptic encephalopathy 1 17
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.