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ONTOLOGY REPORT - ANNOTATIONS


Term:infantile or early childhood epileptic encephalopathy 1
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Accession:DOID:0080472 term browser browse the term
Definition:A neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. (OMIM)
Synonyms:exact_synonym: IECEE1
 primary_id: OMIM:617711
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infantile or early childhood epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565838
RGD:11565846
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Csnk1e casein kinase 1, epsilon JBrowse link 7 120,651,976 120,675,559 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:11554173
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Nrxn2 neurexin 2 JBrowse link 1 221,792,191 221,908,047 RGD:8554872
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:8554872
G Pola1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 62,382,604 62,698,830 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      electroclinical syndrome 331
        infantile or early childhood epileptic encephalopathy 1 20
          early infantile epileptic encephalopathy 1 19
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              visual pathway disease 649
                visual cortex disease 647
                  visual epilepsy 647
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        infantile or early childhood epileptic encephalopathy 1 20
                          early infantile epileptic encephalopathy 1 19
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.