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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 4, Familial
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Accession:DOID:9004338 term browser browse the term
Definition:An autosomal dominant condition in which individuals wake and sleep early, caused by heterozygous mutation in the TIMELESS gene on chromosome 12q13.
Synonyms:exact_synonym: ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4;   FASPS4
 primary_id: MIM:620015


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Advanced Sleep Phase Syndrome 4, Familial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timeless timeless circadian regulator ISO ClinVar Annotator: match by term: Advance sleep phase syndrome, familial, 4 OMIM
ClinVar		 PMID:25741868 NCBI chr 7:654,804...678,769
Ensembl chr 7:654,822...678,738 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Occupational Diseases 144
      advanced sleep phase syndrome 9
        Advanced Sleep Phase Syndrome 4, Familial 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            disease of mental health 8427
              sleep disorder 156
                Dyssomnias 132
                  advanced sleep phase syndrome 9
                    Advanced Sleep Phase Syndrome 4, Familial 1
paths to the root