Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   MIM: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 ATOX1 antioxidant 1 copper chaperone ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr16:71,299,321...71,314,598
Ensembl chr16:71,299,321...71,314,597
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Stiff-man syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
JBrowse link
G FAT2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr16:71,448,491...71,531,664
Ensembl chr16:71,469,847...71,530,501
JBrowse link
G G3BP1 G3BP stress granule assembly factor 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr16:71,236,025...71,276,111
Ensembl chr16:71,236,339...71,276,078
JBrowse link
G GLRA1 glycine receptor alpha 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia | ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 More... NCBI chr16:71,140,751...71,236,867
Ensembl chr16:71,142,198...71,230,344
JBrowse link
G GLRB glycine receptor beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:45,912,869...46,034,455
Ensembl chr 8:45,912,938...46,034,448
JBrowse link
G GM2A ganglioside GM2 activator ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr16:71,742,090...71,767,872
Ensembl chr16:71,742,090...71,754,884
JBrowse link
G GPHN gephyrin ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
JBrowse link
G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital
ClinVar Annotator: match by term: STIFF-PERSON SYNDROME, CONGENITAL
ClinVar PMID:11938437 PMID:18700894 PMID:22675738 PMID:24225367 PMID:25741868 More... NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698
JBrowse link
G SLC36A1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr16:71,540,646...71,589,532
Ensembl chr16:71,538,296...71,589,456
JBrowse link
G SLC36A2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr16:71,661,946...71,689,464
Ensembl chr16:71,618,797...71,689,218
JBrowse link
G SLC36A3 solute carrier family 36 member 3 ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr16:71,689,211...71,732,634
Ensembl chr16:71,689,245...71,731,418
JBrowse link
G SLC6A5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 2:38,767,447...38,826,891
Ensembl chr 2:38,767,501...38,826,783
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161
JBrowse link
G TRAK1 trafficking kinesin protein 1 ISO OMIM:184850 MouseDO NCBI chr13:25,773,345...25,934,770
Ensembl chr13:25,774,250...25,935,828
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15428
    syndrome 10415
      Stiff-Person syndrome 16
Path 2
Term Annotations click to browse term
  disease 15428
    disease of anatomical entity 15098
      nervous system disease 13250
        peripheral nervous system disease 4260
          neuropathy 4072
            neuromuscular disease 3142
              muscular disease 2176
                Muscle Rigidity 27
                  hyperekplexia 22
                    Stiff-Person syndrome 16
paths to the root