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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: Congenital Stiff-Man Syndromes;   Congenital Stiff-Person Syndrome;   Congenital Stiff-Person Syndromes;   Moersch Woltmann Syndrome;   SPS;   Startle Syndrome;   Startle Syndromes;   Stiff Man Syndrome;   Stiff-Baby Syndrome;   Stiff-Baby Syndromes;   congenital stiff-man syndrome;   stiff-trunk syndrome;   stiff-trunk syndromes;   stiffman syndrome
 narrow_synonym: PER;   PERM;   STIFF-TRUNK SYNDROME PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY
 primary_id: MESH:D016750
 alt_id: OMIM:184850;   RDO:0006991
 xref: GARD:5023
For additional species annotation, visit the Alliance of Genome Resources.


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Stiff-Person syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:10411898
G Trak1 trafficking kinesin protein 1 JBrowse link 8 129,946,596 130,106,382 RGD:13592920

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  disease 14759
    syndrome 4210
      Stiff-Person syndrome 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Immune & Inflammatory Diseases 2999
        immune system disease 2432
          hypersensitivity reaction disease 1483
            autoimmune hypersensitivity disease 1195
              autoimmune disease of the nervous system 402
                Stiff-Person syndrome 2
paths to the root