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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 NW_004936515 10,816,712 10,896,958 RGD:9068941
G Glrb glycine receptor beta JBrowse link NW_004936576 3,665,128 3,752,592 RGD:9068941
G Gphn gephyrin JBrowse link NW_004936495 9,970,683 10,565,467 RGD:9068941
G Slc6a5 solute carrier family 6 member 5 JBrowse link NW_004936654 1,525,843 1,576,220 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 NW_004936635 3,817,034 3,956,928 RGD:7240710
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor alpha 1 JBrowse link NW_004936515 10,816,712 10,896,958 RGD:7240710
G Gphn gephyrin JBrowse link NW_004936495 9,970,683 10,565,467 RGD:9068941
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrb glycine receptor beta JBrowse link NW_004936576 3,665,128 3,752,592 RGD:7240710
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a5 solute carrier family 6 member 5 JBrowse link NW_004936654 1,525,843 1,576,220 RGD:7240710
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad1 ATPase family AAA domain containing 1 JBrowse link NW_004936735 1,377,168 1,423,696 RGD:7240710
Stiff-Person syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor alpha 1 JBrowse link NW_004936515 10,816,712 10,896,958 RGD:9068941
G Glrb glycine receptor beta JBrowse link NW_004936576 3,665,128 3,752,592 RGD:9068941
G Gphn gephyrin JBrowse link NW_004936495 9,970,683 10,565,467 RGD:9068941
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link NW_004936715 2,357,215 2,446,601 RGD:9068941
G Slc6a5 solute carrier family 6 member 5 JBrowse link NW_004936654 1,525,843 1,576,220 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11842
    disease of anatomical entity 11431
      nervous system disease 9319
        central nervous system disease 7805
          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 11842
    disease of anatomical entity 11431
      nervous system disease 9319
        peripheral nervous system disease 2170
          neuropathy 2017
            neuromuscular disease 1582
              muscular disease 1035
                Muscle Rigidity 14
                  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.