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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
ClinVar Annotator: match by term: Hereditary hyperekplexia
CTD
ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 More... NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Stiff-Person syndrome 6
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                Muscle Rigidity 15
                  hyperekplexia 8
                    Stiff-Person syndrome 6
paths to the root