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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 movement disease that is of unknown etiology characterized by progressive rigidity. (DO)
Synonyms:exact_synonym: Moersch Woltmann Syndrome;   SPS;   Startle Syndrome;   Startle Syndromes;   congenital stiff-man syndrome;   congenital stiff-man syndromes;   congenital stiff-person syndrome;   congenital stiff-person syndromes;   familial startle disease;   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: EFO:0007498;   GARD:5023;   ICD10CM:G25.82;   ICD9CM:333.91;   NCI:C85170
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 2:166,134,616...166,207,498
Ensembl chr 2:166,134,626...166,207,489 		JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stiff-person syndrome, congenital		 CTD
ClinVar		 PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 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 21118
    syndrome 10725
      Stiff-Person syndrome 6
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        peripheral nervous system disease 4076
          neuropathy 3863
            neuromuscular disease 3039
              muscular disease 2123
                Muscle Rigidity 16
                  hyperekplexia 11
                    Stiff-Person syndrome 6
paths to the root