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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:Respiratory Tract Fistula
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Accession:DOID:9001952 term browser browse the term
Definition:An abnormal passage communicating between any component of the respiratory tract or between any part of the respiratory system and surrounding organs.
Synonyms:exact_synonym: Respiratory Tract Fistulas
 primary_id: MESH:D016156



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Bronchial Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain treatment IDA RGD PMID:24647564 RGD:8661658 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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:8988179 PMID:9150172 PMID:9536098 PMID:9667259 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Nog noggin ISO
ISS
OMIM:189960 MouseDO
RGD
PMID:17260385 RGD:12801454 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula ClinVar PMID:17200668 PMID:23824750 PMID:25741868 PMID:26283626 PMID:26315354 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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 PMID:36135330 PMID:36474027 NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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
ClinVar Annotator: match by term: Brunner Winter syndrome | 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: Microcephaly-oculo-digito-esophageal-duodenal syndrome
CTD
ClinVar
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 More... NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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 chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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 X, 6 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 chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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 chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
JBrowse link
G Amer3 APC membrane recruitment protein 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:36,790,355...36,802,341
Ensembl chr 9:36,790,932...36,802,419
JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:16818050 RGD:2289003 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090 PMID:8988179 PMID:9150172 PMID:9536098 PMID:9667259 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
G Gtf3c1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:180,203,995...180,270,201
Ensembl chr 1:180,203,995...180,270,201
JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
JBrowse link
G Lurap1l leucine rich adaptor protein 1-like ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:95,362,005...95,409,439
Ensembl chr 5:95,362,005...95,409,438
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:17200668 PMID:23824750 PMID:25741868 PMID:26283626 PMID:26315354 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Pcdh1 protocadherin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr18:30,011,692...30,039,679
Ensembl chr18:30,013,185...30,039,318
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544
JBrowse link
G Polr2b RNA polymerase II subunit B ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:30,797,228...30,834,916
Ensembl chr14:30,797,228...30,834,916
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027 NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr12:10,391,587...10,420,462
Ensembl chr12:10,391,696...10,419,611
JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
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 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
JBrowse link
G Gli2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)
CTD
MouseDO
RGD
PMID:18519639 PMID:18519639 RGD:11556208 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:25741868 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192
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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      respiratory system disease 5241
        Respiratory Tract Fistula 51
          Bronchial Fistula 1
          Tracheoesophageal Fistula + 50
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Anatomical Pathological Conditions 2750
        Fistula 69
          Respiratory Tract Fistula 51
            Bronchial Fistula 1
            Tracheoesophageal Fistula + 50
paths to the root