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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:tracheal disease
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Accession:DOID:3225 term browser browse the term
Definition:Diseases involving the TRACHEA.
Synonyms:exact_synonym: tracheal diseases
 primary_id: MESH:D014133
 xref: NCI:C35079
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
tracheal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO DNA:deletion,mutation: : RGD PMID:18450781 RGD:4140433 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382 		JBrowse link
Bronchomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Bronchomalacia ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar		 PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277 		JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More... NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO RGD PMID:12947339 RGD:12801415 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		JBrowse link
G Nog noggin ISO OMIM:189960 RGD
MouseDO		 PMID:17260385 RGD:12801454 NCBI chrNW_004955451:6,192,368...6,193,766
Ensembl chrNW_004955451:6,193,042...6,193,740 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955428:12,583,203...12,753,577
Ensembl chrNW_004955428:12,583,699...12,753,274 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:25003913 RGD:12801416 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome ClinVar PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 More... NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818 		JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818 		JBrowse link
Martinez-Frias Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx6 regulatory factor X6 ISO ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA ClinVar PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chrNW_004955436:213,810...278,699
Ensembl chrNW_004955436:213,809...280,577 		JBrowse link
tracheal stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd1 dopamine receptor D1 ISO mRNA:decreased expression:medial dorsal nucleus of thalamus (rat) RGD PMID:21527662 RGD:7248613 NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595 		JBrowse link
G Tgfb1 transforming growth factor beta 1 susceptibility ISO associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human) RGD PMID:20172396 RGD:4145116 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
Tracheoesophageal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917 		JBrowse link
G Amer3 APC membrane recruitment protein 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955459:267,754...277,422 JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955409:36,795,351...36,803,605
Ensembl chrNW_004955409:36,795,358...36,803,605 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955495:6,466,434...6,489,612
Ensembl chrNW_004955495:6,467,357...6,489,633 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:16818050 RGD:2289003 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432 		JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More... NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592 		JBrowse link
G Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955435:12,671,759...12,695,070
Ensembl chrNW_004955435:12,671,759...12,695,564 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955451:17,655,659...17,690,117
Ensembl chrNW_004955451:17,653,125...17,690,117 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) RGD PMID:15065023 RGD:12801427 NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863 		JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955403:8,195,241...8,261,402
Ensembl chrNW_004955403:8,195,255...8,261,402 		JBrowse link
G Gtf3c1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955493:5,651,841...5,724,426
Ensembl chrNW_004955493:5,651,841...5,724,426 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955407:33,056,004...33,275,681
Ensembl chrNW_004955407:33,113,319...33,275,675 		JBrowse link
G Klhl17 kelch like family member 17 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955486:9,745,162...9,750,874
Ensembl chrNW_004955486:9,745,162...9,750,874 		JBrowse link
G Lurap1l leucine rich adaptor protein 1 like ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955434:15,995,549...16,035,055
Ensembl chrNW_004955434:15,995,549...16,035,055 		JBrowse link
G Pcdh1 protocadherin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955415:11,916,095...11,934,658
Ensembl chrNW_004955415:11,916,092...11,934,658 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688 		JBrowse link
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955413:14,454,376...14,764,323
Ensembl chrNW_004955413:14,454,377...14,764,558 		JBrowse link
G Polr2b RNA polymerase II subunit B ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955447:14,110,182...14,150,556
Ensembl chrNW_004955447:14,110,182...14,150,556 		JBrowse link
G Ptpn14 protein tyrosine phosphatase non-receptor type 14 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955406:3,368,833...3,463,170
Ensembl chrNW_004955406:3,368,694...3,456,437 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955520:3,411,504...3,483,703
Ensembl chrNW_004955520:3,411,770...3,483,413 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955428:12,583,203...12,753,577
Ensembl chrNW_004955428:12,583,699...12,753,274 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955450:9,005,332...9,070,790 JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955460:14,106,711...14,137,983
Ensembl chrNW_004955460:14,106,711...14,138,033 		JBrowse link
G Tlr9 toll like receptor 9 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chrNW_004955474:4,764,902...5,045,421
Ensembl chrNW_004955474:4,870,835...5,042,310 		JBrowse link
VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane2 ciliogenesis and planar polarity effector complex subunit 2 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chrNW_004955527:2,060,063...2,064,152
Ensembl chrNW_004955527:2,060,063...2,064,152 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180 		JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chrNW_004955541:1,341,715...1,345,397
Ensembl chrNW_004955541:1,317,114...1,346,590 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918 		JBrowse link
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:19006232 NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579 		JBrowse link
G Ift172 intraflagellar transport 172 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)		 CTD
MouseDO
RGD		 PMID:18519639 RGD:11556208 NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chrNW_004955406:19,363,938...19,402,134 JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:12632369 RGD:12801426 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G Tbc1d32 TBC1 domain family member 32 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chrNW_004955436:3,385,216...3,542,497
Ensembl chrNW_004955436:3,386,180...3,540,933 		JBrowse link
G Trap1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:25741868 NCBI chrNW_004955442:13,697,471...13,733,161
Ensembl chrNW_004955442:13,696,810...13,733,161 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chrNW_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180 		JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly ClinVar PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      respiratory system disease 3083
        tracheal disease 55
          Novak Syndrome 0
          Tracheobronchomalacia + 2
          Tracheobronchomegaly 0
          Tracheobronchopathia Osteoplastica 0
          Tracheoesophageal Fistula + 50
          tracheal calcification 0
          tracheal neoplasm + 0
          tracheal stenosis + 2
          tracheitis 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      respiratory system disease 3083
        upper respiratory tract disease 369
          tracheal disease 55
            Novak Syndrome 0
            Tracheobronchomalacia + 2
            Tracheobronchomegaly 0
            Tracheobronchopathia Osteoplastica 0
            Tracheoesophageal Fistula + 50
            tracheal calcification 0
            tracheal neoplasm + 0
            tracheal stenosis + 2
            tracheitis 0
paths to the root