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ONTOLOGY REPORT - ANNOTATIONS


Term:hyperekplexia
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Accession:DOID:0060695 term browser browse the term
Definition:A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
Synonyms:exact_synonym: Hyperekplexias;   Kok disease;   STHE;   congenital stiff man syndrome;   exagerrated startle reflex;   exaggerated startle reaction;   startle disease
 primary_id: MESH:D000071017
 alt_id: OMIA:001594
 xref: OMIM:PS149400
For additional species annotation, visit the Alliance of Genome Resources.


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hyperekplexia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:8554872
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:8554872
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:8554872
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:7240710
RGD:8554872
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:7240710
RGD:8554872
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:13592920
RGD:8554872
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:7240710
RGD:8554872
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:7240710
RGD:8554872
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad1 ATPase family, AAA domain containing 1 JBrowse link 1 251,234,702 251,386,996 RGD:8554872
RGD:7240710
Stiff-Person syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:11554173
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:11554173
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:11554173
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:10411898
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:11554173
G Trak1 trafficking kinesin protein 1 JBrowse link 8 129,946,596 130,106,382 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15851
    disease of anatomical entity 15243
      nervous system disease 10713
        central nervous system disease 8827
          hyperekplexia 8
            Stiff-Person syndrome 6
            early infantile epileptic encephalopathy 8 1
            hyperekplexia 1 2
            hyperekplexia 2 1
            hyperekplexia 3 1
            hyperekplexia 4 1
Path 2
Term Annotations click to browse term
  disease 15851
    disease of anatomical entity 15243
      nervous system disease 10713
        peripheral nervous system disease 2338
          neuropathy 2152
            neuromuscular disease 1690
              muscular disease 1109
                Muscle Rigidity 16
                  hyperekplexia 8
                    Stiff-Person syndrome 6
                    early infantile epileptic encephalopathy 8 1
                    hyperekplexia 1 2
                    hyperekplexia 2 1
                    hyperekplexia 3 1
                    hyperekplexia 4 1
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.