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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:fatal familial insomnia
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Accession:DOID:0050433 term browser browse the term
Definition:A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. (DO)
Synonyms:exact_synonym: FFI;   familial fatal insomnias
 primary_id: MESH:D034062
 alt_id: OMIM:600072
 xref: GARD:6429;   ICD10CM:A81.83;   ICD9CM:046.72;   NCI:C84711
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir146a microRNA 146a susceptibility ISO miRNA:SNP: (rs57095329) (human) RGD PMID:29216791 RGD:126925194 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Fatal familial insomnia OMIM
ClinVar
PMID:1351274 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease by infectious agent 2143
      Bacterial Infections and Mycoses 998
        Central Nervous System Infections 283
          prion disease 55
            fatal familial insomnia 3
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
              sleep disorder 148
                Dyssomnias 123
                  Intrinsic Sleep Disorders 98
                    Sleep Initiation and Maintenance Disorders 10
                      fatal familial insomnia 3
paths to the root