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ONTOLOGY REPORT - ANNOTATIONS


Term:Stiff-Person syndrome
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Accession:DOID:13366 term browser browse the term
Definition:A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
Synonyms:exact_synonym: Familial startle disease;   Moersch Woltmann Syndrome;   SPS;   Startle Syndrome;   Startle Syndromes;   congenital stiff-man syndrome;   congenital stiff-man syndromes;   congenital stiff-person syndrome;   congenital stiff-person syndromes;   hereditary hyperekplexia;   stiff man syndrome;   stiff-baby syndrome;   stiff-baby syndromes;   stiff-trunk syndrome;   stiff-trunk syndromes;   stiffman syndrome
 narrow_synonym: PER;   PERM;   progressive encephalomyelitis with rigidity
 primary_id: MESH:D016750
 alt_id: MESH:C538136;   OMIM:184850
 xref: GARD:5023;   ICD10CM:G25.82;   ICD9CM:333.91;   NCI:C85170
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Stiff-Person syndrome 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:11554173
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:11554173
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:11554173
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:10411898
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:11554173
G Trak1 trafficking kinesin protein 1 JBrowse link 8 129,946,596 130,106,382 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15851
    syndrome 6064
      Stiff-Person syndrome 6
Path 2
Term Annotations click to browse term
  disease 15851
    disease of anatomical entity 15243
      nervous system disease 10713
        peripheral nervous system disease 2338
          neuropathy 2152
            neuromuscular disease 1690
              muscular disease 1109
                Muscle Rigidity 16
                  hyperekplexia 8
                    Stiff-Person syndrome 6
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.