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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:advanced sleep phase syndrome 2
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Accession:DOID:0110012 term browser browse the term
Definition:An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: FASPS2;   familial advanced sleep phase syndrome 2
 primary_id: OMIM:615224

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advanced sleep phase syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk1d casein kinase 1 delta ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 2 OMIM
ClinVar		 PMID:15800623 PMID:23636092 NCBI chrNW_004955506:904,659...936,293
Ensembl chrNW_004955506:904,660...935,330 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Occupational Diseases 124
      advanced sleep phase syndrome 9
        advanced sleep phase syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              sleep disorder 140
                Dyssomnias 116
                  advanced sleep phase syndrome 9
                    advanced sleep phase syndrome 2 1
paths to the root