Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:bronchiectasis
go back to main search page
Accession:DOID:9563 term browser browse the term
Definition:Persistent abnormal dilatation of the bronchi.
Synonyms:exact_synonym: Polynesian bronchiectasis;   bronchiectases
 related_synonym: cystic fibrosis-like syndrome
 primary_id: MESH:D001987
 xref: ICD10CM:J47;   ICD10CM:J47.9;   ICD9CM:494;   NCI:C84475;   OMIM:PS211400;   ORDO:60033
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
bronchiectasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:28492532 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Cftr CF transmembrane conductance regulator susceptibility ISO DNA:mutations, polymorphisms:
DNA:polymorphism:splice junction:IVS8 5T (human)
RGD PMID:7543317 PMID:12123489 RGD:4140447, RGD:4140457 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 PMID:25741868 More... NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:11788826 PMID:16627867 PMID:19357118 PMID:25741868 PMID:26228299 More... NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17931847 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:sputum RGD PMID:10515411 RGD:4143181 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome ClinVar NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
JBrowse link
G Mbl2 mannose binding lectin 2 ISO associated with Common Variable Immunodeficiency; protein:decreased secretion:serum (human) RGD PMID:20568383 RGD:4889425 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression: : RGD PMID:19725099 RGD:5129526 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bronchiectasis ClinVar NCBI chr 8:60,149,234...60,348,726
Ensembl chr 8:60,149,234...60,350,514
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome ClinVar NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7785020 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphisms:cds:p. I333V, D637G (human) RGD PMID:17245734 RGD:5147842 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tnf tumor necrosis factor severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:17931847 PMID:18221721 RGD:12904660 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome ClinVar NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Bronchiectasis ClinVar NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520
JBrowse link
bronchiectasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of
ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to
OMIM
ClinVar
PMID:1283148 PMID:1284534 PMID:1284538 PMID:1284639 PMID:1370365 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1
ClinVar Annotator: match by term: CYSTIC FIBROSIS-LIKE SYNDROME
OMIM
ClinVar
PMID:8589714 PMID:9118951 PMID:9576123 PMID:9674649 PMID:10523338 More... NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
bronchiectasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 ClinVar PMID:25741868 NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2
ClinVar Annotator: match by term: Idiopathic bronchiectasis
ClinVar Annotator: match by OMIM:613021
OMIM
ClinVar
PMID:1506904 PMID:9654209 PMID:10403853 PMID:10523338 PMID:11978598 More... NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
bronchiectasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3 OMIM
ClinVar
PMID:10391210 PMID:12473862 PMID:17460608 PMID:17560176 PMID:17634077 More... NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21131974 PMID:22693285 PMID:23255504 PMID:28492532 PMID:31443223 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24747639 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31879361 More... NCBI chr 2:44,630,640...44,633,914
Ensembl chr 2:44,626,369...44,633,914
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10745040 PMID:22387996 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO
RGD
PMID:12142464 RGD:734893 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
MouseDO
RGD
PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:244400
ClinVar
CTD
RGD
PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 PMID:18434704 More... RGD:1601083 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
PMID:9536098 PMID:17576681 PMID:18950741 PMID:28492532 NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,249
Ensembl chr10:101,566,304...101,570,237
JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390 PMID:23022101 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:1523039 PMID:8813877 PMID:25048963 NCBI chr 2:44,636,581...44,643,730
Ensembl chr 2:44,636,856...44,642,601
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23261302 PMID:23261303 PMID:25741868 PMID:28492532 NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO
ISS
ClinVar Annotator: match by term: Kartagener syndrome ClinVar
MouseDO
PMID:25192045 PMID:25224326 PMID:25741868 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779 PMID:28492532 NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:28492532 NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      respiratory system disease 2935
        lower respiratory tract disease 1821
          bronchial disease 879
            bronchiectasis 50
              Kartagener syndrome 35
              bronchiectasis 1 2
              bronchiectasis 2 2
              bronchiectasis 3 1
paths to the root