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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 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Npas2 neuronal PAS domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31284022 NCBI chr 9:45,901,262...46,081,880
Ensembl chr 9:45,901,741...46,081,880
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22899986 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Sgo1 shugoshin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25282101 NCBI chr 9:4,420,158...4,435,939
Ensembl chr 9:4,421,069...4,436,601
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 susceptibility ISO DNA:missense mutation:cds:p.A129T(human)
CTD Direct Evidence: marker/mechanism
OMIM
CTD
PMID:12736803, PMID:12736803 RGD:1300232 NCBI chr10:105,568,091...105,572,407
Ensembl chr10:105,568,091...105,572,403
JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 4:140,703,619...140,709,319
Ensembl chr 4:140,703,619...140,709,319
JBrowse link
G Cry1 cryptochrome circadian regulator 1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 7:24,534,593...24,634,098
Ensembl chr 7:24,534,615...24,634,097
JBrowse link
G Nfil3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr17:12,261,102...12,276,316
Ensembl chr17:12,261,102...12,276,315
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 9:98,555,154...98,597,362
Ensembl chr 9:98,555,169...98,597,359
JBrowse link
G Per3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chr 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
JBrowse link
G Rorc RAR-related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 2:195,612,471...195,636,797
Ensembl chr 2:195,617,021...195,637,630
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 chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
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 9:98,555,154...98,597,362
Ensembl chr 9:98,555,169...98,597,359
JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
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 chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
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 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
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 chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
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 chr10:105,568,091...105,572,407
Ensembl chr10:105,568,091...105,572,403
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 7:24,534,593...24,634,098
Ensembl chr 7:24,534,615...24,634,097
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:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
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 chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946
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 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
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 chr14:78,403,448...78,523,108
Ensembl chr14:78,424,960...78,469,480
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
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 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:8177735, PMID:10508514, PMID:10854091, PMID:11035019, PMID:11055898, PMID:11058114, PMID:11227330, PMID:11738883, PMID:12111643, PMID:12615169, PMID:12966523, PMID:15057977, PMID:15558314, PMID:16169931, PMID:16473305, PMID:16690727, PMID:16832102, PMID:16844334, PMID:17089071, PMID:17236109, PMID:17267601, PMID:17351020, PMID:17387578, PMID:18337588, PMID:19652677, PMID:19914908, PMID:20151026, PMID:21154482, PMID:21982064, PMID:23421866, PMID:23921973, PMID:24399845, PMID:24458799, PMID:25741868, PMID:27354166, PMID:27799067, PMID:28492532, PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
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
PMID:12652298, PMID:15459175, PMID:15746153, PMID:15788730, PMID:16845274, PMID:17273973, PMID:17517686, PMID:18285828, PMID:19116176, PMID:19236431, PMID:19752160, PMID:20691407, PMID:20981775, PMID:21857958, PMID:22578325, PMID:25087610, PMID:25741868, PMID:26467025, PMID:12652298 RGD:1599405 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Sms spermine synthase ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25741868 NCBI chr  X:40,363,646...40,415,110
Ensembl chr  X:40,363,646...40,415,109
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
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 chr10:46,599,392...46,720,921
Ensembl chr10:46,602,231...46,720,910
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 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Chronobiology Disorders 26
          Jet Lag Syndrome 0
          Smith-Magenis syndrome + 14
          advanced sleep phase syndrome + 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.