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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 chr 8:19,429,728...19,433,760
Ensembl chr 8:19,429,643...19,433,808 		JBrowse link
G Ppan peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 8:19,423,908...19,427,941
Ensembl chr 8:19,423,961...19,427,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Pathological Conditions, Signs and Symptoms 13384
      Signs and Symptoms 10875
        Neurologic Manifestations 10113
          sleep disorder 153
            Dyssomnias 129
              Intrinsic Sleep Disorders 104
                recurrent hypersomnia 23
                  narcolepsy 19
                    Cataplexy and Narcolepsy 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            disease of mental health 8327
              sleep disorder 153
                Dyssomnias 129
                  Intrinsic Sleep Disorders 104
                    recurrent hypersomnia 23
                      narcolepsy 19
                        Cataplexy 5
                          Cataplexy and Narcolepsy 2
paths to the root