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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Stiff-Person syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9927632, PMID:18175347 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:179,768,040...179,842,612
Ensembl chr 2:179,769,009...179,842,547
JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:105,270,418...105,336,369
Ensembl chr 1:105,284,753...105,336,363
JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:129,946,596...130,106,382
Ensembl chr 8:130,009,573...130,106,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Stiff-Person syndrome 6
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                Muscle Rigidity 22
                  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.