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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:Gerstmann-Straussler-Scheinker syndrome
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Accession:DOID:4249 term browser browse the term
Definition:A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. (DO)
Synonyms:exact_synonym: GSD;   GSS;   Gerstmann Straussler Disease;   Gerstmann Straussler Inherited Spongiform Encephalopathy;   Gerstmann Straussler syndrome;   Gerstmann-Straussler diseases;   Gerstmann-Straussler-Scheinker disease;   cerebellar ataxia, progressive dementia, and amyloid deposits in CNS;   subacute spongiform encephalopathy, Gerstmann-Straussler type
 narrow_synonym: cerebral amyloid angiopathy, PRNP-related
 primary_id: MESH:D016098
 alt_id: OMIM:137440
 xref: GARD:7690;   ICD10CM:A81.82;   ICD9CM:046.71;   NCI:C84727
For additional species annotation, visit the Alliance of Genome Resources.



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Gerstmann-Straussler-Scheinker syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome
OMIM
CTD
ClinVar
PMID:1357663 PMID:1363809 PMID:1363810 PMID:1672296 PMID:1674033 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Diseases of the Aged 1324
      dementia 740
        Cerebral Amyloidosis with Spongiform Encephalopathy 1
          Gerstmann-Straussler-Scheinker syndrome 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        central nervous system disease 11365
          brain disease 10659
            disease of mental health 7548
              cognitive disorder 2003
                dementia 740
                  Cerebral Amyloidosis with Spongiform Encephalopathy 1
                    Gerstmann-Straussler-Scheinker syndrome 1
paths to the root