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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
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Accession:DOID:9002695 term browser browse the term
Definition:A condition characterized by transient weakness or paralysis of somatic musculature triggered by an emotional stimulus or physical exertion. Cataplexy is frequently associated with NARCOLEPSY. During a cataplectic attack, there is a marked reduction in muscle tone similar to the normal physiologic hypotonia that accompanies rapid eye movement sleep (SLEEP, REM). (From Adams et al., Principles of Neurology, 6th ed, p396)
Synonyms:exact_synonym: Cataleptic Attack;   Cataleptic Attacks;   Henneberg Syndrome;   Status Cataplexicus;   Tonelessness Syndrome;   Tonelessness Syndromes
 primary_id: MESH:D002385


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Cataplexy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 ISO RGD PMID:15128861 RGD:1358427 NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cataplexy ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
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 9:20,805,645...20,809,886
Ensembl chr 9:20,805,645...20,809,919 		JBrowse link
G Ppan peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 9:20,799,471...20,803,475
Ensembl chr 9:20,799,471...20,803,474 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        Neurologic Manifestations 9788
          sleep disorder 152
            Dyssomnias 128
              Intrinsic Sleep Disorders 103
                recurrent hypersomnia 22
                  narcolepsy 18
                    Cataplexy 5
                      Cataplexy and Narcolepsy 2
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              sleep disorder 152
                Dyssomnias 128
                  Intrinsic Sleep Disorders 103
                    recurrent hypersomnia 22
                      narcolepsy 18
                        Cataplexy 5
                          Cataplexy and Narcolepsy 2
paths to the root