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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:paranasal sinus disease
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Accession:DOID:1352 term browser browse the term
Definition:Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors.
Synonyms:exact_synonym: disorder of nasal sinus;   paranasal sinus diseases
 primary_id: MESH:D010254
 alt_id: RDO:0006284
 xref: EFO:0009481;   NCI:C26843
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Chronic Rhinosinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd8a CD8 subunit alpha ameliorates ISO protein:decreased expression:blood, T cell (human) RGD PMID:24639246 RGD:124715444 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:uncinate process, nasal mucosa (human) RGD PMID:23613503 RGD:8696039 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human) RGD PMID:16549749 RGD:8549791 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:decreased activity:serum: RGD PMID:23144819 RGD:8693716 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Prg2 proteoglycan 2, pro eosinophil major basic protein disease_progression ISO associated with Nasal Polyps; RGD PMID:24450586 RGD:13506943 NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101 		JBrowse link
ethmoid sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:ethmoid sinus RGD PMID:9800627 RGD:6483785 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
maxillary sinus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:15040115 RGD:8662355 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
nasal cavity adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:19903339 RGD:9014708 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
nasal cavity cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox2 SRY-box transcription factor 2 ISO DNA:amplification RGD PMID:23544055 RGD:8661654 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:19950227 RGD:8547762 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
nasal type extranodal NK/T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A severity ISO Nasal Type;protein:increased expression:nasal cavity (human) RGD PMID:18756548 RGD:8657087 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Fas Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO associated with ethmoid sinus cancer and Neoplasm Metastasis RGD PMID:29496492 RGD:151708712 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:24438193 RGD:150530467 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased expression:nasal cavity (human) RGD PMID:17225522 RGD:153298933 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
paranasal sinus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:20970165 RGD:7421559 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20970165 RGD:7421559 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Tp53 tumor protein p53 treatment ISO DNA:mutations:cds: RGD PMID:22575263 PMID:23369851 RGD:8547763, RGD:8547764 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Rhinosinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO associated with Nasal Polyps RGD PMID:22279949 RGD:7421555 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G C3 complement C3 ISO protein:increased expression:serum RGD PMID:19593977 RGD:4889484 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C4a complement C4A disease_progression ISO DNA:deletion: : RGD PMID:16879240 RGD:5688262 NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:16702571 RGD:7483585 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO DNA:haplotype::rs38850,rs38855,rs38857(human) RGD PMID:20416453 RGD:8548615 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:increased expression:nose: RGD PMID:20713758 RGD:8548883 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 ISO protein:decreased expression:blood, mononuclear cell RGD PMID:23168151 RGD:7364820 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il17a interleukin 17A ISO associated with Asthma;mRNA, protein:increased expression:nasal polyps (human) RGD PMID:19672092 RGD:4889146 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:nasal cavity epithelium RGD PMID:11197112 RGD:7401169 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il22ra1 interleukin 22 receptor subunit alpha 1 susceptibility ISO DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human) RGD PMID:19393422 RGD:5147411 NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296 		JBrowse link
G Il4 interleukin 4 treatment ISO associated with Asthma RGD PMID:12787306 RGD:7829803 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:23401274 RGD:8547880 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming treatment IDA RGD PMID:23131200 PMID:19389874 RGD:7349403, RGD:7364734 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 severity ISO associated with Nasal Polyps RGD PMID:22961479 RGD:7777146 NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:nasal mucosa (human) RGD PMID:21711960 RGD:6483796 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO mRNA,protein:increased expression:paranasal sinus
DNA:polymorphisms:: rs3804099,rs3804100(human)		 RGD PMID:22182736 PMID:21493395 RGD:7800733, RGD:8552975 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:paranasal sinus RGD PMID:22182736 RGD:7800733 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:nasal cavity epithelium RGD PMID:11197112 PMID:20147558 RGD:7401169, RGD:7401236 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Rhinosinusitis, Allergic Fungal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human) RGD PMID:15577839 RGD:5147654 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
sinonasal undifferentiated carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maml3 mastermind-like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO RGD PMID:30120966 RGD:127285653 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
sinusitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:19786211 RGD:5130914 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:14510109 RGD:7411729 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cftr CF transmembrane conductance regulator susceptibility ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16083808 PMID:11773581 RGD:4140477 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Chia chitinase, acidic severity ISO mRNA:decreased expression:sinus, epithelial cell (human) RGD PMID:19379605 RGD:5037227 NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO associated with Rhinitis;mRNA:increased expression:paranasal sinus RGD PMID:19153309 RGD:5135257 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Il13 interleukin 13 susceptibility ISO associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20358028 PMID:20358028 RGD:4145767 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il1b interleukin 1 beta ISO associated with Hypersensitivity RGD PMID:16358839 RGD:4143214 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:11758471 RGD:8662964 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:polymorphism: : RGD PMID:11037831 RGD:4143260 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:: RGD PMID:20392482 RGD:5130763 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO protein:increased secretion:sinus mucus RGD PMID:17063754 RGD:5131192 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:18396779 RGD:4892328 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein: increased expression: nasal cavity epithelium RGD PMID:21255638 RGD:6483060 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pip prolactin induced protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr 4:70,787,627...70,791,921
Ensembl chr 4:70,787,627...70,791,921 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:21711960 RGD:6483796 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:21711960 RGD:6483796 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18391768 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Scgb3a2 secretoglobin, family 3A, member 2 ISO mRNA,protein:decreased expression:nasal mucosa RGD PMID:21385388 RGD:5147389 NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762 		JBrowse link
G Sftpa1 surfactant protein A1 ISO associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa RGD PMID:17599561 RGD:4143506 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpd surfactant protein D ISO associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa RGD PMID:17599561 RGD:4143506 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:nasal cavity epithelium: RGD PMID:14743629 RGD:8552991 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Pneumococal Infections;
mRNA:increased expression:nasal cavity epithelium:		 RGD PMID:16301373 PMID:14743629 RGD:7800729, RGD:8552991 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr9 toll-like receptor 9 ISO Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)
Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)		 RGD PMID:17283572 PMID:18416964 RGD:5130870, RGD:5130708 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      Otorhinolaryngologic Diseases 1740
        nose disease 231
          paranasal sinus disease 62
            Paranasal Sinus Neoplasms + 18
            maxillary sinus cholesteatoma 0
            phaeohyphomycosis + 0
            sinusitis + 45
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              nose disease 231
                paranasal sinus disease 62
                  Paranasal Sinus Neoplasms + 18
                  maxillary sinus cholesteatoma 0
                  phaeohyphomycosis + 0
                  sinusitis + 45
paths to the root