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
Accession: DOID:9004576
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
xref: EFO:0004698
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20532872
NCBI chrNW_004936619:597,970...618,564
Ensembl chrNW_004936619:608,441...616,779
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Gabrb3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Insomnia
ClinVar
PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532
NCBI chrNW_004936471:39,791,633...40,193,049
Ensembl chrNW_004936471:39,791,613...40,187,923
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Htr2a
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:20684606
RGD:401938599
NCBI chrNW_004936565:335,238...394,683
Ensembl chrNW_004936565:334,393...394,715
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20199424
NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902
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Meis1
Meis homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28604731
NCBI chrNW_004936491:11,079,574...11,216,451
Ensembl chrNW_004936491:11,079,455...11,217,388
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Ppargc1a
PPARG coactivator 1 alpha
ISO
DNA:SNP:cds:p.G482S (rs8192678) (human)
RGD
PMID:22392034
RGD:6484261
NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226
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Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Insomnia
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474
NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
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Nefl
neurofilament light chain
ISO
protein:increased expression:CSF (human)
RGD
PMID:30048013
RGD:127285394
NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697
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Prnp
prion protein (Kanno blood group)
ISO
ClinVar Annotator: match by term: Fatal familial insomnia
ClinVar OMIM
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1971924 PMID:1975028 PMID:2253724 PMID:2378641 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7908444 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8137139 PMID:8461023 PMID:8618678 PMID:9270595 PMID:9279329 PMID:9531435 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9786248 PMID:9789072 PMID:9813003 PMID:10079068 PMID:10090891 PMID:10360778 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10588836 PMID:10665501 PMID:10889050 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11839833 PMID:11840201 PMID:12451207 PMID:12590162 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14967768 PMID:14970845 PMID:15277640 PMID:15366237 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16227536 PMID:16313190 PMID:16315279 PMID:16369046 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17013786 PMID:17029785 PMID:17494694 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19543376 PMID:19680558 PMID:19703264 PMID:19923577 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20583301 PMID:20592908 PMID:20593190 PMID:21269331 PMID:21298055 PMID:21616973 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22072968 PMID:22108575 PMID:22318125 PMID:22561193 PMID:22584955 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23296137 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23723004 PMID:24583440 PMID:24838726 PMID:25064618 PMID:25279981 PMID:25482600 PMID:25522698 PMID:25741868 PMID:25818675 PMID:26000326 PMID:26268049 PMID:26488179 PMID:26578040 PMID:26791950 PMID:27341347 PMID:27350609 PMID:27803826 PMID:28492532 PMID:29092967 PMID:29382530 PMID:29887139 More...
NCBI chrNW_004936485:14,104,829...14,118,614
Ensembl chrNW_004936485:14,104,831...14,118,629
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