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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 4 57,443,094 57,541,494 RGD:9068941
G GLRB glycine receptor beta JBrowse link 15 54,429,131 54,519,844 RGD:9068941
G GPHN gephyrin JBrowse link 8 40,585,625 41,204,007 RGD:9068941
G SLC6A5 solute carrier family 6 member 5 JBrowse link 21 42,581,931 42,639,870 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 49,101,034 49,312,797 RGD:7240710
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 4 57,443,094 57,541,494 RGD:7240710
G GPHN gephyrin JBrowse link 8 40,585,625 41,204,007 RGD:9068941
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRB glycine receptor beta JBrowse link 15 54,429,131 54,519,844 RGD:7240710
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC6A5 solute carrier family 6 member 5 JBrowse link 21 42,581,931 42,639,870 RGD:7240710
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATAD1 ATPase family AAA domain containing 1 JBrowse link 26 37,749,799 37,811,490 RGD:7240710
Stiff-Person syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 4 57,443,094 57,541,494 RGD:9068941
G GLRB glycine receptor beta JBrowse link 15 54,429,131 54,519,844 RGD:9068941
G GPHN gephyrin JBrowse link 8 40,585,625 41,204,007 RGD:9068941
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 11 8,717,182 8,810,716 RGD:9068941
G SLC6A5 solute carrier family 6 member 5 JBrowse link 21 42,581,931 42,639,870 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12573
    disease of anatomical entity 12134
      nervous system disease 9858
        central nervous system disease 8247
          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 12573
    disease of anatomical entity 12134
      nervous system disease 9858
        peripheral nervous system disease 2255
          neuropathy 2092
            neuromuscular disease 1642
              muscular disease 1079
                Muscle Rigidity 15
                  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.