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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:obstructive sleep apnea
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Accession:DOID:0050848 term browser browse the term
Definition:A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. (DO)
Synonyms:exact_synonym: OSAHS;   Sleep Apnea Hypopnea Syndrome;   obstructive sleep apnea syndrome;   obstructive sleep apneas;   upper airway resistance sleep apnea syndrome
 primary_id: MESH:D020181
 alt_id: OMIM:107650
 xref: EFO:0003918;   ICD10CM:G47.33;   ICD9CM:327.23;   NCI:C116337;   NCI:C27168

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obstructive sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:heart left ventricle, liver RGD PMID:19323616 RGD:4890033 NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427 		JBrowse link
G Adora1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chrNW_004936567:1,430,128...1,508,626
Ensembl chrNW_004936567:1,429,817...1,462,532 		JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chrNW_004936486:4,400,467...4,401,588
Ensembl chrNW_004936486:4,399,915...4,403,149 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO OMIM:107650 MouseDO NCBI chrNW_004936530:71,965...143,940
Ensembl chrNW_004936530:71,920...143,940 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity ISO mRNA:increased expression:faucial pillar, muscle (human) RGD PMID:20847078 RGD:4891917 NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chrNW_004936547:479,261...504,757 JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chrNW_004936565:1,917,970...1,919,027 JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human)
protein:increased expression:myocardium (rat)
DNA:polymorphism:exon:p.K198N (human)		 RGD PMID:17198911 PMID:18580062 PMID:19358946 RGD:4144901 RGD:4145067 RGD:4145075 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)		 CTD
RGD		 PMID:19358946 PMID:20083432 RGD:4145067 RGD:4892306 NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910 		JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO protein:decreased expression:plasma (human) RGD PMID:16750036 PMID:23815362 RGD:10401240 RGD:5687742 NCBI chrNW_004936561:3,946,256...3,954,472
Ensembl chrNW_004936561:3,950,340...3,952,405 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chrNW_004936602:3,037,862...3,044,863
Ensembl chrNW_004936602:3,038,549...3,042,506 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chrNW_004936593:268,736...273,623
Ensembl chrNW_004936593:268,350...277,229 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO protein:decreased expression:plasma:independent of level of somnolence or obesity RGD PMID:15627867 RGD:1600936 NCBI chrNW_004936490:17,007,001...17,008,363
Ensembl chrNW_004936490:17,006,997...17,008,369 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:plasma (rat)
protein:decreased expression:serum		 RGD PMID:19342292 PMID:20040038 RGD:4142829 RGD:4142845 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444 		JBrowse link
G LOC101967032 cytochrome b-245 light chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chrNW_004936641:1,036,967...1,044,954
Ensembl chrNW_004936641:1,036,967...1,044,991 		JBrowse link
G LOC101968921 angiotensin-converting enzyme severity
susceptibility		 ISO associated with Hypertension;DNA:polymorphism (human)
mRNA:increased expression:cardiac atrium 		RGD PMID:19482546 PMID:20182789 PMID:24775918 RGD:11039043 RGD:4140915 RGD:4140917 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G LOC101976500 haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:palatopharyngeal muscle RGD PMID:19652426 PMID:20836084 RGD:5129212 RGD:5130877 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364 		JBrowse link
G Nos2 nitric oxide synthase 2 severity ISO protein:decreased expression, decreased phosphorylation:endothelial cell
associated with obesity; protein:increased expression:sputum		 RGD PMID:18098375 PMID:18413499 RGD:4891909 RGD:4891935 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051 		JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO protein:decreased expression, decreased phosphorylation:endothelial cells
DNA:polymorphism:exon: p. E298D (human)
protein:increased expression:endothelial cell
associated with heart failure; protein:decreased expression:serum		 RGD PMID:16806535 PMID:18413499 PMID:18651156 PMID:20159829 RGD:4891909 RGD:4892051 RGD:4892052 RGD:4892059 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO mRNA, protein:increased expression:lymphoid tissue: RGD PMID:15611350 RGD:4892608 NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP: :rs10097555(human) RGD PMID:25325441 RGD:405100236 NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Sftpb surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chrNW_004936712:1,614,979...1,621,207
Ensembl chrNW_004936712:1,614,979...1,622,466 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 no_association ISO DNA:polymorphism, repeat:promoter, intron (human)
DNA:polymorphism:promoter (human)		 RGD PMID:15867649 PMID:16215942 PMID:19014073 RGD:4889462 RGD:4889463 RGD:4889466 NCBI chrNW_004936538:6,205,268...6,239,062
Ensembl chrNW_004936538:6,205,251...6,239,083 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chrNW_004936495:7,658,250...7,949,417 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO protein:increased expression:plasma
DNA:polymorphism:promoter: c.-308G>A (human)		 RGD PMID:14633242 PMID:19022640 PMID:20846669 RGD:4142857 RGD:4143435 RGD:4143442 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      respiratory system disease 3166
        Respiration Disorders 431
          Apnea 68
            sleep apnea 61
              obstructive sleep apnea 43
                Obesity Hypoventilation Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              sleep disorder 144
                Dyssomnias 120
                  Intrinsic Sleep Disorders 97
                    sleep apnea 61
                      obstructive sleep apnea 43
                        Obesity Hypoventilation Syndrome 0
paths to the root