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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 5 151,822,513 151,924,851 RGD:8554872
G GLRB glycine receptor beta JBrowse link 4 157,076,125 157,172,090 RGD:8554872
G GPHN gephyrin JBrowse link 14 66,507,934 67,181,805 RGD:8554872
G SLC6A5 solute carrier family 6 member 5 JBrowse link 11 20,599,494 20,659,285 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 63,634,967 63,785,546 RGD:8554872
RGD:7240710
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 5 151,822,513 151,924,851 RGD:7240710
RGD:8554872
G GPHN gephyrin JBrowse link 14 66,507,934 67,181,805 RGD:13592920
RGD:8554872
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRB glycine receptor beta JBrowse link 4 157,076,125 157,172,090 RGD:8554872
RGD:7240710
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC6A5 solute carrier family 6 member 5 JBrowse link 11 20,599,494 20,659,285 RGD:8554872
RGD:7240710
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATAD1 ATPase family AAA domain containing 1 JBrowse link 10 87,751,512 87,841,359 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 5 151,822,513 151,924,851 RGD:11554173
G GLRB glycine receptor beta JBrowse link 4 157,076,125 157,172,090 RGD:11554173
G GPHN gephyrin JBrowse link 14 66,507,934 67,181,805 RGD:11554173
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 5 119,452,497 119,542,332 RGD:10411898
G SLC6A5 solute carrier family 6 member 5 JBrowse link 11 20,599,494 20,659,285 RGD:11554173
G TRAK1 trafficking kinesin protein 1 JBrowse link 3 42,013,802 42,225,890 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17602
    disease of anatomical entity 16224
      nervous system disease 12490
        central nervous system disease 10564
          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 17602
    disease of anatomical entity 16224
      nervous system disease 12490
        peripheral nervous system disease 2491
          neuropathy 2314
            neuromuscular disease 1832
              muscular disease 1192
                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.