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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


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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 Ncoa2 nuclear receptor coactivator 2 ISO RGD PMID:27432117 RGD:153002580 NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451 		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 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
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:25741868 More... 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 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
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:25741868 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 PMID:34205586 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 1:227,883,249...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 chr14:73,646,299...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 PMID:28492532 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
ISS		 DNA:deletions, frameshift mutations:cds:
ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome
OMIM:182290
ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8841119 PMID:12652298 PMID:15459175 PMID:15746153 PMID:15788730 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 Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome ClinVar PMID:9536098 PMID:16266984 PMID:17576681 PMID:20154675 PMID:25389632 More... NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519 		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 3:29,214,581...29,344,890
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 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Chronobiology Disorders 29
          Jet Lag Syndrome 0
          Smith-Magenis syndrome + 15
          advanced sleep phase syndrome + 9
paths to the root