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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;   RDO:0002714
 xref: NCI:C35079
For additional species annotation, visit the Alliance of Genome Resources.

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 chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		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:25741868 PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902 		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 PMID:11307153 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19471317 PMID:19863560 PMID:20104584 PMID:20694749 PMID:20736950 PMID:21120943 PMID:21324516 PMID:23199084 PMID:23318356 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26295337 PMID:26467025 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29360161 PMID:29478780 PMID:29907814 PMID:29909963 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581 		JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444 		JBrowse link
G Nog noggin ISO
ISS		 OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691 		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 CTD Direct Evidence: marker/mechanism CTD PMID:19852433 PMID:21532573 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379 		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: Feingold syndrome 1 ClinVar
OMIM		 PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:25741868 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379 		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 IEP mRNA:decreased expression:medial dorsal nucleus of thalamus (rat) RGD PMID:21527662 RGD:7248613 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541 		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 chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		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 chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496 		JBrowse link
G Amer3 APC membrane recruitment protein 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:41,089,417...41,101,108
Ensembl chr 9:41,096,835...41,099,189 		JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr15:33,759,108...33,767,017
Ensembl chr15:33,759,001...33,766,438 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:16818050 RGD:2289003 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740 		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 PMID:11307153 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 PMID:19471317 PMID:19863560 PMID:20104584 PMID:20694749 PMID:20736950 PMID:21120943 PMID:21324516 PMID:23199084 PMID:23318356 PMID:23621881 PMID:24033266 PMID:24055113 PMID:24156927 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26295337 PMID:26467025 PMID:27741520 PMID:28008555 PMID:28294317 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29360161 PMID:29478780 PMID:29907814 PMID:29909963 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581 		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 chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) RGD PMID:15065023 RGD:12801427 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:31,780,477...31,805,728
Ensembl chr11:31,780,487...31,805,728 		JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872 		JBrowse link
G Gtf3c1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:197,032,473...197,098,676
Ensembl chr 1:197,032,474...197,098,649 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:31,943,119...32,069,249
Ensembl chr11:31,893,489...32,069,249 		JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:173,654,238...173,659,706
Ensembl chr 5:173,654,860...173,659,675 		JBrowse link
G Lurap1l leucine rich adaptor protein 1-like ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:98,468,039...98,515,126
Ensembl chr 5:98,469,047...98,515,125 		JBrowse link
G Pcdh1 protocadherin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr18:31,330,081...31,343,147
Ensembl chr18:31,328,919...31,343,797 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858 		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 chr 4:173,732,196...174,102,502
Ensembl chr 4:173,732,248...174,102,496 		JBrowse link
G Polr2b RNA polymerase II subunit B ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:33,070,104...33,107,792
Ensembl chr14:33,070,078...33,107,776 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108 		JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr12:12,374,132...12,403,382
Ensembl chr12:12,374,790...12,402,552 		JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:9,169,409...9,384,835
Ensembl chr14:9,141,512...9,381,870 		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 2 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:159,735,008...159,735,956
Ensembl chr 5:159,734,838...159,742,774 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317 		JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:19006232 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692 		JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:p.C470R(mouse)		 CTD PMID:18519639, PMID:18519639 RGD:11556208 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:73,423,396...73,460,890
Ensembl chr13:73,423,397...73,460,935 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937 		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 chr 6:75,793,223...75,873,854
Ensembl chr 6:75,793,960...75,874,235 		JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H		 CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly		 CTD
ClinVar		 PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11748304 PMID:14518070 PMID:17392703 PMID:17942903 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:27535533 PMID:27959697 PMID:28492532 PMID:28526761 PMID:30287823 PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by OMIM:314390		 OMIM
ClinVar		 PMID:2629409 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      respiratory system disease 2712
        tracheal disease 50
          Novak Syndrome 0
          Tracheobronchomalacia + 1
          Tracheobronchomegaly 0
          Tracheobronchopathia Osteoplastica 0
          Tracheoesophageal Fistula + 46
          trachea leiomyoma + 0
          tracheal calcification 0
          tracheal cancer + 0
          tracheal stenosis + 2
          tracheitis 0
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      respiratory system disease 2712
        upper respiratory tract disease 341
          tracheal disease 50
            Novak Syndrome 0
            Tracheobronchomalacia + 1
            Tracheobronchomegaly 0
            Tracheobronchopathia Osteoplastica 0
            Tracheoesophageal Fistula + 46
            trachea leiomyoma + 0
            tracheal calcification 0
            tracheal cancer + 0
            tracheal stenosis + 2
            tracheitis 0
paths to the root