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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:Narcolepsy 1
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Accession:DOID:9002925 term browser browse the term
Synonyms:exact_synonym: NRCLP1;   Narcoleptic Syndrome 1;   Type 1 narcolepsy
 narrow_synonym: NARCOLEPTIC SYNDROME 1 CATAPLEXY
 primary_id: MESH:C563534
 alt_id: OMIM:161400


show annotations for term's descendants           Sort by:
Narcolepsy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcrt hypocretin neuropeptide precursor ISO ClinVar Annotator: match by term: Narcolepsy 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10973318 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sleep disorder 153
            Dyssomnias 129
              Intrinsic Sleep Disorders 104
                recurrent hypersomnia 23
                  narcolepsy 19
                    Narcolepsy 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              sleep disorder 153
                Dyssomnias 129
                  Intrinsic Sleep Disorders 104
                    recurrent hypersomnia 23
                      narcolepsy 19
                        Narcolepsy 1 1
paths to the root