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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 subunit JBrowse link 11 55,514,239 55,608,198 RGD:11554173
G Glrb glycine receptor, beta subunit JBrowse link 3 80,843,598 80,913,660 RGD:11554173
G Gphn gephyrin JBrowse link 12 78,217,325 78,684,772 RGD:11554173
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 50,128,201 50,196,270 RGD:10411898
G Slc6a5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 JBrowse link 7 49,906,984 49,963,864 RGD:11554173
G Trak1 trafficking protein, kinesin binding 1 JBrowse link 9 121,297,502 121,474,919 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13269
    syndrome 5876
      Stiff-Person syndrome 6
Path 2
Term Annotations click to browse term
  disease 13269
    disease of anatomical entity 12754
      nervous system disease 10287
        peripheral nervous system disease 2364
          neuropathy 2192
            neuromuscular disease 1734
              muscular disease 1146
                Muscle Rigidity 16
                  hyperekplexia 8
                    Stiff-Person syndrome 6
paths to the root

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