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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:Sleep Arousal Disorders
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Accession:DOID:9007411 term browser browse the term
Definition:Sleep disorders characterized by impaired arousal from the deeper stages of sleep (generally stage III or IV sleep).
Synonyms:exact_synonym: Confusional Arousal;   Confusional Arousals;   Sleep Arousal Disorder
 primary_id: MESH:D020921;   RDO:0006592


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autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sleep disorder 153
            Parasomnias 10
              Sleep Arousal Disorders 1
                Night Terrors 0
                Somnambulism + 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            disease of mental health 8318
              sleep disorder 153
                Parasomnias 10
                  Sleep Arousal Disorders 1
                    Night Terrors 0
                    Somnambulism + 1
paths to the root