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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 3
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Accession:DOID:0110013 term browser browse the term
Definition:An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23. (DO)
Synonyms:exact_synonym: FASPS3;   familial advanced sleep phase syndrome 3
 primary_id: OMIM:616882
 alt_id: RDO:9001763
For additional species annotation, visit the Alliance of Genome Resources.


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advanced sleep phase syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome, familial, 3 ClinVar
OMIM
PMID:25741868, PMID:26903630 NCBI chr 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Occupational Diseases 112
      advanced sleep phase syndrome 8
        advanced sleep phase syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              sleep disorder 144
                Dyssomnias 123
                  advanced sleep phase syndrome 8
                    advanced sleep phase syndrome 3 1
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.