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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
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Accession:DOID:0050628 term browser browse the term
Definition:A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. (DO)
Synonyms:exact_synonym: Shift Work Sleep Disorder;   Shift-Work Sleep Disorders;   circadian rhythm sleep disorders;   disturbed nyctohemeral rhythm;   disturbed nyctohemeral rhythms;   familial advanced sleep-phase syndrome;   non 24 hour sleep wake disorder;   nonorganic sleep wake cycle disorders;   sleep wake cycle disorders;   sleep wake schedule disorders;   sleep-wake cycle disorder;   sleep-wake schedule disorder
 primary_id: MESH:D020178
 xref: MIM:PS604348;   ORDO:164736


show annotations for term's descendants           Sort by:
advanced sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aanat aralkylamine N-acetyltransferase ISO DNA:missense mutation:cds:p.A129T(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12736803 PMID:12736803 RGD:1300232 NCBI chr10:101,827,072...101,831,805
Ensembl chr10:101,827,301...101,831,801 		JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 4:141,618,453...141,624,154
Ensembl chr 4:141,618,476...141,624,774 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091 		JBrowse link
G Nfil3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr17:12,280,499...12,295,728
Ensembl chr17:12,280,484...12,295,858 		JBrowse link
G Per2 period circadian regulator 2 ISO familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G RGD PMID:11232563 RGD:1600411 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Per3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607 		JBrowse link
G Rorc RAR-related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907 		JBrowse link
advanced sleep phase syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk1d casein kinase 1, delta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:106,221,992...106,256,620
Ensembl chr10:106,221,992...106,256,614 		JBrowse link
G Per2 period circadian regulator 2 ISO
ISS		 OMIM:604348
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Advanced sleep phase syndrome 1		 OMIM
MouseDO
CTD
ClinVar		 PMID:11232563 PMID:25741868 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607 		JBrowse link
advanced sleep phase syndrome 2 term browser
Symbol Object Name Qualifiers 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 chr10:106,221,992...106,256,620
Ensembl chr10:106,221,992...106,256,614 		JBrowse link
advanced sleep phase syndrome 3 term browser
Symbol Object Name Qualifiers 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 3 ClinVar
OMIM		 PMID:25741868 PMID:26903630 NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607 		JBrowse link
Advanced Sleep Phase Syndrome 4, Familial term browser
Symbol Object Name Qualifiers 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
delayed sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aanat aralkylamine N-acetyltransferase ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar PMID:12736803 NCBI chr10:101,827,072...101,831,805
Ensembl chr10:101,827,301...101,831,801 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 susceptibility ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to OMIM
ClinVar		 PMID:25741868 PMID:28388406 PMID:32538895 NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Occupational Diseases 139
      advanced sleep phase syndrome 9
        Advanced Sleep Phase Syndrome 4, Familial 1
        Jet Lag Syndrome 0
        advanced sleep phase syndrome 1 3
        advanced sleep phase syndrome 2 1
        advanced sleep phase syndrome 3 1
        delayed sleep phase syndrome 2
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      nervous system disease 14264
        central nervous system disease 12592
          brain disease 11818
            disease of mental health 8414
              sleep disorder 154
                Dyssomnias 130
                  advanced sleep phase syndrome 9
                    Advanced Sleep Phase Syndrome 4, Familial 1
                    Jet Lag Syndrome 0
                    advanced sleep phase syndrome 1 3
                    advanced sleep phase syndrome 2 1
                    advanced sleep phase syndrome 3 1
                    delayed sleep phase syndrome 2
paths to the root