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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 1
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Accession:DOID:0110011 term browser browse the term
Definition:An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: FASPS1;   familial advanced sleep phase syndrome 1
 primary_id: MESH:C565789
 alt_id: OMIM:604348
For additional species annotation, visit the Alliance of Genome Resources.


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advanced sleep phase syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk1d casein kinase 1, delta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Familial advanced sleep phase syndrome 1
ClinVar Annotator: match by OMIM:604348
OMIM
ClinVar
PMID:11232563, PMID:25741868 NCBI chr 9:98,555,154...98,597,362
Ensembl chr 9:98,555,169...98,597,359
JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Occupational Diseases 113
      advanced sleep phase syndrome 8
        advanced sleep phase syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              sleep disorder 144
                Dyssomnias 123
                  advanced sleep phase syndrome 8
                    advanced sleep phase syndrome 1 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.