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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:Chronobiology Disorders
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Accession:DOID:9004980 term browser browse the term
Definition:Disruptions of the rhythmic cycle of bodily functions or activities.
Synonyms:exact_synonym: Biological Clock Disturbance;   Biological Clock Disturbances;   Chronobiology Disorder;   Circadian Dysregulation;   Circadian Rhythm Disorder;   Circadian Rhythm Disorders;   Psychogenic Inversion of Circadian Rhythm
 primary_id: MESH:D021081;   RDO:0007327
For additional species annotation, visit the Alliance of Genome Resources.



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Chronobiology Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291558 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Npas2 neuronal PAS domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31284022 NCBI chr 9:41,463,361...41,642,322
Ensembl chr 9:41,463,830...41,642,320
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22899986 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Sgo1 shugoshin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25282101 NCBI chr 9:6,672,109...6,687,908
Ensembl chr 9:6,672,123...6,687,805
JBrowse link
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 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
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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
Smith-Magenis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:24026677 PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr 1:227,883,247...227,962,119
Ensembl chr 1:227,883,249...227,962,097
JBrowse link
G Jakmip1 janus kinase and microtubule interacting protein 1 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr14:73,647,366...73,766,830
Ensembl chr14:73,632,428...73,713,993
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:10854091 PMID:11055898 PMID:11738883 PMID:12111643 PMID:12966523 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Rai1 retinoic acid induced 1 ISO DNA:deletions, frameshift mutations:cds:
ClinVar Annotator: match by term: Smith-Magenis syndrome
ClinVar Annotator: match by OMIM:182290
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:12652298 PMID:15459175 PMID:15746153 PMID:15788730 PMID:16845274 More... RGD:1599405 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
JBrowse link
G Sms spermine synthase ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25741868 NCBI chr  X:37,516,949...37,572,657
Ensembl chr  X:37,516,931...37,570,822
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        Chronobiology Disorders 26
          Jet Lag Syndrome 0
          Smith-Magenis syndrome + 14
          advanced sleep phase syndrome + 8
paths to the root