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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

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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 OMIM
ClinVar		 PMID:10973318 NCBI chrNW_004936490:17,007,001...17,008,363
Ensembl chrNW_004936490:17,006,997...17,008,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sleep disorder 144
            Dyssomnias 120
              Intrinsic Sleep Disorders 97
                recurrent hypersomnia 22
                  narcolepsy 17
                    Narcolepsy 1 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              sleep disorder 144
                Dyssomnias 120
                  Intrinsic Sleep Disorders 97
                    recurrent hypersomnia 22
                      narcolepsy 17
                        Narcolepsy 1 1
paths to the root