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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 16 71,140,751 71,236,867 RGD:9068941
G GLRB glycine receptor beta JBrowse link 8 45,912,869 46,034,455 RGD:9068941
G GPHN gephyrin JBrowse link 7 90,345,726 90,913,625 RGD:9068941
G SLC6A5 solute carrier family 6 member 5 JBrowse link 2 38,767,447 38,826,891 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 50,159,912 50,578,020 RGD:7240710
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 16 71,140,751 71,236,867 RGD:7240710
G GPHN gephyrin JBrowse link 7 90,345,726 90,913,625 RGD:9068941
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRB glycine receptor beta JBrowse link 8 45,912,869 46,034,455 RGD:7240710
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC6A5 solute carrier family 6 member 5 JBrowse link 2 38,767,447 38,826,891 RGD:7240710
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATAD1 ATPase family AAA domain containing 1 JBrowse link 14 99,802,939 99,885,562 RGD:7240710
Stiff-Person syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLRA1 glycine receptor alpha 1 JBrowse link 16 71,140,751 71,236,867 RGD:9068941
G GLRB glycine receptor beta JBrowse link 8 45,912,869 46,034,455 RGD:9068941
G GPHN gephyrin JBrowse link 7 90,345,726 90,913,625 RGD:9068941
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 2 123,313,445 123,401,386 RGD:9068941
G SLC6A5 solute carrier family 6 member 5 JBrowse link 2 38,767,447 38,826,891 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12518
    disease of anatomical entity 12073
      nervous system disease 9798
        central nervous system disease 8211
          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 12518
    disease of anatomical entity 12073
      nervous system disease 9798
        peripheral nervous system disease 2244
          neuropathy 2083
            neuromuscular disease 1636
              muscular disease 1066
                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.