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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:Sleep Initiation and Maintenance Disorders
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Accession:DOID:9004576 term browser browse the term
Definition:Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.
Synonyms:exact_synonym: Chronic Insomnia;   DIMS (Disorders of Initiating and Maintaining Sleep);   Disorders of Initiating and Maintaining Sleep;   Early Awakening;   Insomnia;   Insomnia Disorder;   Insomnia Disorders;   Insomnias;   Nonorganic Insomnia;   Primary Insomnia;   Psychophysiological Insomnia;   Rebound Insomnia;   Secondary Insomnia;   Sleep Initiation Dysfunction;   Sleep Initiation Dysfunctions;   Sleeplessness;   Transient Insomnia
 primary_id: MESH:D007319;   RDO:0005893
For additional species annotation, visit the Alliance of Genome Resources.



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Sleep Initiation and Maintenance Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20532872 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO DNA:point mutation:exon:R192H
ClinVar Annotator: match by term: Insomnia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 PMID:12189488 RGD:1601268 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr14:93,155,426...93,294,373
Ensembl chr14:93,155,419...93,294,265
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:21292329 RGD:5147604 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir146a microRNA 146a susceptibility ISO miRNA:SNP: (rs57095329) (human) RGD PMID:29216791 RGD:126925194 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Fatal familial insomnia OMIM
ClinVar
PMID:1351274 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        Neurologic Manifestations 6166
          sleep disorder 148
            Dyssomnias 123
              Intrinsic Sleep Disorders 98
                Sleep Initiation and Maintenance Disorders 10
                  fatal familial insomnia 3
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            disease of mental health 7532
              sleep disorder 148
                Dyssomnias 123
                  Intrinsic Sleep Disorders 98
                    Sleep Initiation and Maintenance Disorders 10
                      fatal familial insomnia 3
paths to the root