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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:chronic asthma
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Accession:DOID:0080809 term browser browse the term
Definition:An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. (DO)
Synonyms:exact_synonym: chronic obstructive asthma;   chronic obstructive asthma with acute exacerbation;   chronic obstructive asthma with status asthmaticus
 xref: EFO:0009759



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chronic asthma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngf nerve growth factor treatment IMP RGD PMID:30681402 RGD:405100716 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
allergic asthma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 treatment ISO RGD PMID:25530546 RGD:11081163 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 treatment ISO RGD PMID:23933317 RGD:40903070 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121
JBrowse link
G Epx eosinophil peroxidase ISO protein:increased expression:urine: RGD PMID:11846868 RGD:13506893 NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
JBrowse link
G Il25 interleukin 25 treatment ISO RGD PMID:17889290 RGD:40902975 NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G RT1-B RT1 class II, locus B susceptibility ISO DNA:polymorphism: RGD PMID:28380482 RGD:13506910
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO RGD PMID:22397267 RGD:13506905 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Ha RT1 class II, locus Ha susceptibility ISO DNA:polymorphism: RGD PMID:28380482 RGD:13506910 NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO DNA:polymorphism: RGD PMID:28380482 RGD:13506910 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 exacerbates ISO RGD PMID:21592044 PMID:21592044 RGD:126928124, RGD:126928124 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
aspirin-induced respiratory disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacng6 calcium voltage-gated channel auxiliary subunit gamma 6 susceptibility ISO DNA:SNP,haplotype:rs192808(human) RGD PMID:20860846 RGD:13524562 NCBI chr 1:65,732,910...65,747,377
Ensembl chr 1:65,732,632...65,747,341
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20485159 PMID:20022477 RGD:4145619 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 PMID:17641958 PMID:20485159 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16502481 PMID:20485159 PMID:15970796 RGD:5144000 NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
JBrowse link
G Fancc FA complementation group C ISO DNA:haplotype::rs4647416(human) RGD PMID:21670957 RGD:11045795 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link
G Il4 interleukin 4 susceptibility ISO DNA:SNPs:promoter,5'UTR,intron:multiple RGD PMID:20921925 RGD:11528633 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Ltc4s leukotriene C4 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
JBrowse link
G Ms4a2 membrane spanning 4-domains A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20485159 NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
JBrowse link
G Ptger2 prostaglandin E receptor 2 ISO ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15496426 PMID:16502481 NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
JBrowse link
G Ptgir prostaglandin I2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20485159 NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:mast cell
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16502481 PMID:20485159 PMID:9487340 RGD:5143936 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO RGD PMID:25975240 RGD:11074090 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO RGD PMID:25975240 RGD:11074090 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO RGD PMID:25975240 RGD:11074090 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16502481 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:21796142 RGD:5147839 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tbx21 T-box transcription factor 21 ISO ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15806396 PMID:16502481 NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
JBrowse link
G Tbxa2r thromboxane A2 receptor susceptibility ISO DNA:polymorphism: :795T>C (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16502481 PMID:20485159 PMID:15898979 RGD:11059537 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
JBrowse link
asthma, nasal polyps, and aspirin intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox15 arachidonate 15-lipoxygenase ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance ClinVar PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance ClinVar PMID:25741868 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
JBrowse link
G Ptger2 prostaglandin E receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
JBrowse link
G Tbx21 T-box transcription factor 21 susceptibility ISO ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:25741868 NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
JBrowse link
childhood-onset asthma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkbia NFKB inhibitor alpha exacerbates ISO associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human) RGD PMID:23487427 RGD:40902982 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
exercise-induced bronchoconstriction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox5 arachidonate 5-lipoxygenase ISO RGD PMID:10984370 RGD:4890423 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, secretion (human) RGD PMID:19996575 RGD:4892021 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:8630576 RGD:5147837 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
JBrowse link
Experimental Allergic Asthma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl3 acyl-CoA synthetase long-chain family member 3 ISO RGD PMID:23526225 RGD:13831300 NCBI chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:29713367 RGD:13792581 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Cd86 CD86 molecule treatment ISO RGD PMID:25344652 RGD:11354965 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Fas Fas cell surface death receptor treatment IEP RGD PMID:29713367 RGD:13792581 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand treatment IEP RGD PMID:29713367 RGD:13792581 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Il23a interleukin 23 subunit alpha ISO RGD PMID:19935773 PMID:26344076 RGD:5037240, RGD:11251537 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
occupational asthma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33075463 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Cdh17 cadherin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25918132 NCBI chr 5:25,262,820...25,314,884
Ensembl chr 5:25,262,758...25,314,884
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25918132 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
G Pla2g4a phospholipase A2 group 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27504716 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
JBrowse link
G Prkca protein kinase C, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27504716 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
JBrowse link
G Prkd1 protein kinase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27504716 NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25721048 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25721048 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G RT1-A2 RT1 class Ia, locus A2 susceptibility ISO DNA:SNP: :rs1573294(human) RGD PMID:24709764 RGD:13506912 NCBI chr20:4,870,939...4,910,183 JBrowse link
G RT1-B RT1 class II, locus B susceptibility ISO DNA:SNP: : rs928976(human) RGD PMID:24709764 RGD:13506912
G RT1-DOa RT1 class II, locus DOa treatment ISO DNA:SNP: :rs3128935(human) RGD PMID:24709764 RGD:13506912 NCBI chr20:4,753,587...4,756,590
Ensembl chr20:4,753,598...4,756,577
JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO DNA:SNP: : rs928976(human) RGD PMID:24709764 RGD:13506912 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G RT1-S3 RT1 class Ib, locus S3 susceptibility ISO DNA:SNP: :rs1573294(human) RGD PMID:24709764 RGD:13506912 NCBI chr20:2,670,654...2,675,411
Ensembl chr20:2,670,709...2,675,411
JBrowse link
G Tenm3 teneurin transmembrane protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25918132 NCBI chr16:41,251,909...43,978,594
Ensembl chr16:41,252,182...43,978,594
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25721048 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25721048 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      respiratory system disease 5243
        respiratory allergy 393
          asthma 354
            chronic asthma 51
              T2-high asthma 0
              T2-low asthma 0
              adult-onset severe asthma 0
              childhood-onset asthma 1
              cough variant asthma 0
              extrinsic asthma + 15
              intermittent asthma 0
              intrinsic asthma + 38
              nocturnal asthma 0
              persistent mild asthma 0
              persistent moderate asthma 0
              persistent severe asthma 0
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5757
        immune system disease 5038
          allergic disease 618
            Immediate Hypersensitivity 469
              respiratory allergy 393
                asthma 354
                  chronic asthma 51
                    T2-high asthma 0
                    T2-low asthma 0
                    adult-onset severe asthma 0
                    childhood-onset asthma 1
                    cough variant asthma 0
                    extrinsic asthma + 15
                    intermittent asthma 0
                    intrinsic asthma + 38
                    nocturnal asthma 0
                    persistent mild asthma 0
                    persistent moderate asthma 0
                    persistent severe asthma 0
paths to the root