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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: DSPD;   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
 alt_id: OMIM:614163
 xref: OMIM:PS604348;   ORDO:164736
For additional species annotation, visit the Alliance of Genome Resources.


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 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 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
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 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 9:92,007,289...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 OMIM:615224 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, familial, 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
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 ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar PMID:28388406 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 17205
    Occupational Diseases 115
      advanced sleep phase syndrome 8
        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 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              sleep disorder 143
                Dyssomnias 119
                  advanced sleep phase syndrome 8
                    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