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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:Cataplexy and Narcolepsy
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Accession:DOID:9004136 term browser browse the term
Definition:Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).
Synonyms:exact_synonym: narcolepsy with cataplexy;   narcolepsy-cataplexy syndrome;   narcolepsy-cataplexy syndromes
 xref: EFO:0000614;   MONDO:0016158



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Cataplexy and Narcolepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF3G eukaryotic translation initiation factor 3 subunit G ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:9,663,525...9,668,475
Ensembl chr19:10,324,063...10,328,960
JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:9,659,930...9,663,901 JBrowse link
G PPAN peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:9,654,770...9,659,792
Ensembl chr19:10,315,443...10,320,207
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sleep disorder 149
            Dyssomnias 125
              Intrinsic Sleep Disorders 101
                recurrent hypersomnia 24
                  narcolepsy 18
                    Cataplexy and Narcolepsy 3
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              sleep disorder 149
                Dyssomnias 125
                  Intrinsic Sleep Disorders 101
                    recurrent hypersomnia 24
                      narcolepsy 18
                        Cataplexy 6
                          Cataplexy and Narcolepsy 3
paths to the root