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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 5 153,248,488 153,350,573 RGD:9068941
G GLRB glycine receptor beta JBrowse link 4 161,237,189 161,333,035 RGD:9068941
G GPHN gephyrin JBrowse link 14 65,963,473 66,634,550 RGD:9068941
G SLC6A5 solute carrier family 6 member 5 JBrowse link 11 20,537,781 20,593,089 RGD:9068941
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 62,862,115 63,010,088 RGD:7240710
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 5 153,248,488 153,350,573 RGD:7240710
G GPHN gephyrin JBrowse link 14 65,963,473 66,634,550 RGD:9068941
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRB glycine receptor beta JBrowse link 4 161,237,189 161,333,035 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 20,537,781 20,593,089 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 87,981,974 88,071,098 RGD:7240710
Stiff-Person syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 5 153,248,488 153,350,573 RGD:9068941
G GLRB glycine receptor beta JBrowse link 4 161,237,189 161,333,035 RGD:9068941
G GPHN gephyrin JBrowse link 14 65,963,473 66,634,550 RGD:9068941
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 5 120,628,605 120,713,859 RGD:9068941
G SLC6A5 solute carrier family 6 member 5 JBrowse link 11 20,537,781 20,593,089 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12642
    disease of anatomical entity 12198
      nervous system disease 9918
        central nervous system disease 8311
          hyperekplexia 7
            Stiff-Person syndrome 5
            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 12642
    disease of anatomical entity 12198
      nervous system disease 9918
        peripheral nervous system disease 2229
          neuropathy 2068
            neuromuscular disease 1623
              muscular disease 1055
                Muscle Rigidity 13
                  hyperekplexia 7
                    Stiff-Person syndrome 5
                    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.