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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


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fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR146A microRNA 146a susceptibility IAGP miRNA:SNP: (rs57095329) (human) RGD PMID:29216791 RGD:126925194 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450 		JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP
ISS
EXP		 ClinVar Annotator: match by term: Fatal familial insomnia
OMIM:600072
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 More... NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease by infectious agent 2740
      Bacterial Infections and Mycoses 1246
        Central Nervous System Infections 297
          prion disease 114
            fatal familial insomnia 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32348
      nervous system disease 26239
        central nervous system disease 23473
          brain disease 21908
            disease of mental health 17217
              sleep disorder 165
                Dyssomnias 137
                  Intrinsic Sleep Disorders 112
                    Sleep Initiation and Maintenance Disorders 11
                      fatal familial insomnia 3
paths to the root