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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:Short Sleep
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Accession:DOID:9006913 term browser browse the term
Synonyms:exact_synonym: Short Sleep Phenotype;   Short Sleep Phenotypes;   Short Sleeper;   Short Sleeper Syndrome;   Short Sleeper Syndromes
 xref: EFO:0004807;   OMIM:PS612975



show annotations for term's descendants           Sort by:
Familial Natural Short Sleep 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlhe41 basic helix-loop-helix family, member e41 ISO ClinVar Annotator: match by term: Short sleep, familial natural, 1 OMIM
ClinVar
PMID:19679812 PMID:25083013 NCBI chr 4:178,834,264...178,838,618
Ensembl chr 4:178,834,271...178,838,468
JBrowse link
G Sspn sarcospan ISO ClinVar Annotator: match by term: Short sleep, familial natural, 1 ClinVar PMID:19679812 PMID:25083013 NCBI chr 4:178,890,030...178,946,267
Ensembl chr 4:178,897,147...178,931,554
JBrowse link
Familial Natural Short Sleep 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 ClinVar PMID:31473062 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sleep disorder 152
            Short Sleep 3
              Familial Natural Short Sleep 1 2
              Familial Natural Short Sleep 2 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        central nervous system disease 12373
          brain disease 11610
            disease of mental health 8277
              sleep disorder 152
                Short Sleep 3
                  Familial Natural Short Sleep 1 2
                  Familial Natural Short Sleep 2 1
paths to the root