Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chrNW_004936594:5,720,887...5,743,206
Ensembl chrNW_004936594:5,724,406...5,743,180 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 OMIM
ClinVar		 PMID:11232563 PMID:25741868 NCBI chrNW_004936525:221,601...263,284
Ensembl chrNW_004936525:221,510...263,295 		JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936623:2,291,211...2,362,693
Ensembl chrNW_004936623:2,290,614...2,336,634 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Occupational Diseases 125
      advanced sleep phase syndrome 9
        advanced sleep phase syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              sleep disorder 144
                Dyssomnias 120
                  advanced sleep phase syndrome 9
                    advanced sleep phase syndrome 1 3
paths to the root