Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:hyperekplexia
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
hyperekplexia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 subunit JBrowse link 11 55,514,239 55,608,198 RGD:8554872
G Glrb glycine receptor, beta subunit JBrowse link 3 80,843,598 80,913,660 RGD:8554872
G Gphn gephyrin JBrowse link 12 78,217,325 78,684,772 RGD:8554872
G Slc6a5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 JBrowse link 7 49,906,984 49,963,864 RGD:8554872
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef9 CDC42 guanine nucleotide exchange factor (GEF) 9 JBrowse link X 95,048,930 95,196,853 RGD:7240710
RGD:8554872
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 subunit JBrowse link 11 55,514,239 55,608,198 RGD:7240710
RGD:8554872
RGD:13592920
G Gphn gephyrin JBrowse link 12 78,217,325 78,684,772 RGD:13592920
RGD:8554872
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrb glycine receptor, beta subunit JBrowse link 3 80,843,598 80,913,660 RGD:7240710
RGD:8554872
RGD:13592920
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 JBrowse link 7 49,906,984 49,963,864 RGD:7240710
RGD:8554872
RGD:13592920
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad1 ATPase family, AAA domain containing 1 JBrowse link 19 32,672,558 32,739,787 RGD:8554872
RGD:7240710
Stiff-Person syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 subunit JBrowse link 11 55,514,239 55,608,198 RGD:11554173
G Glrb glycine receptor, beta subunit JBrowse link 3 80,843,598 80,913,660 RGD:11554173
G Gphn gephyrin JBrowse link 12 78,217,325 78,684,772 RGD:11554173
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 50,128,201 50,196,270 RGD:10411898
G Slc6a5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 JBrowse link 7 49,906,984 49,963,864 RGD:11554173
G Trak1 trafficking protein, kinesin binding 1 JBrowse link 9 121,297,502 121,474,919 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13235
    disease of anatomical entity 12738
      nervous system disease 10275
        central nervous system disease 8584
          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 13235
    disease of anatomical entity 12738
      nervous system disease 10275
        peripheral nervous system disease 2357
          neuropathy 2184
            neuromuscular disease 1724
              muscular disease 1138
                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

NHLBI Logo

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