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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 (Kanno blood group) ISO 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 ClinVar
OMIM		 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 PMID:1672296 More... NCBI chrNW_004936485:14,104,829...14,118,614
Ensembl chrNW_004936485:14,104,831...14,118,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Diseases of the Aged 1179
      dementia 801
        Cerebral Amyloidosis with Spongiform Encephalopathy 1
          Gerstmann-Straussler-Scheinker syndrome 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              cognitive disorder 1996
                dementia 801
                  Cerebral Amyloidosis with Spongiform Encephalopathy 1
                    Gerstmann-Straussler-Scheinker syndrome 1
paths to the root