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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:Creutzfeldt-Jakob Disease, Sporadic
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Accession:DOID:9000794 term browser browse the term
Synonyms:primary_id: MESH:C565143;   RDO:0013869
For additional species annotation, visit the Alliance of Genome Resources.


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Creutzfeldt-Jakob Disease, Sporadic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO RGD PMID:19151623 RGD:10395347 NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933
JBrowse link
G GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 ISO RGD PMID:15571982 RGD:10401946 NCBI chr15:53,266,243...53,312,109
Ensembl chr15:53,265,350...53,312,111
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12675
    Diseases of the Aged 1006
      dementia 640
        Creutzfeldt-Jakob disease 18
          Creutzfeldt-Jakob Disease, Sporadic 2
Path 2
Term Annotations click to browse term
  disease 12675
    disease of anatomical entity 12213
      nervous system disease 9961
        central nervous system disease 8413
          brain disease 7787
            disease of mental health 5693
              cognitive disorder 1717
                dementia 640
                  Creutzfeldt-Jakob disease 18
                    Creutzfeldt-Jakob Disease, Sporadic 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.