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ONTOLOGY REPORT - ANNOTATIONS


Term:Gerstmann-Straussler-Scheinker syndrome
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Accession:DOID:4249 term browser browse the term
Definition:An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
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
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Gerstmann-Straussler-Scheinker syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:7240710
RGD:11554173
RGD:8554872

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Path 1
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  disease 0
    Diseases of the Aged 1226
      dementia 664
        Cerebral Amyloidosis with Spongiform Encephalopathy 1
          Gerstmann-Straussler-Scheinker syndrome 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              cognitive disorder 1897
                dementia 664
                  Cerebral Amyloidosis with Spongiform Encephalopathy 1
                    Gerstmann-Straussler-Scheinker syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.