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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: EXAGGERATED STARTLE REACTION;   Familial startle disease;   Hyperekplexia hereditary;   Hyperekplexias;   Kok disease;   STHE;   congenital stiff man syndrome;   exagerrated startle reflex;   startle disease;   stiff baby syndrome
 primary_id: MESH:C538136;   MESH:D000071017
 alt_id: OMIA:001594;   RDO:0004072;   RDO:0016098
 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 Ctsd cathepsin D JBrowse link 1 215,541,570 215,553,446 RGD:8554872
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:8554872
RGD:11554173
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:8554872
RGD:11554173
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:11554173
RGD:8554872
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:8554872
RGD:11554173
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 64,249,576 64,428,444 RGD:7240710
RGD:8554872
hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 JBrowse link 10 40,851,955 40,954,364 RGD:7240710
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:13592920
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:7240710
RGD:8554872
hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:7240710
RGD:8554872
hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad1 ATPase family, AAA domain containing 1 JBrowse link 1 251,234,702 251,386,996 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        hyperekplexia 7
          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 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                Muscle Rigidity 15
                  hyperekplexia 7
                    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.