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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:Familial Natural Short Sleep 2
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Accession:DOID:9006450 term browser browse the term
Synonyms:exact_synonym: FNSS2
 primary_id: OMIM:618591


show annotations for term's descendants           Sort by:
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 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        Neurologic Manifestations 10043
          sleep disorder 153
            Short Sleep 3
              Familial Natural Short Sleep 2 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        central nervous system disease 12398
          brain disease 11634
            disease of mental health 8302
              sleep disorder 153
                Short Sleep 3
                  Familial Natural Short Sleep 2 1
paths to the root