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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:Fistula
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Accession:DOID:9007343 term browser browse the term
Definition:Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body.
Synonyms:exact_synonym: Fistulas
 primary_id: MESH:D005402


show annotations for term's descendants           Sort by:
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:31,253,918...31,288,073 		JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IEP
IMP 		protein:increased activity:heart left ventricle (rat) RGD PMID:22768235 PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Ackr1 atypical chemokine receptor 1 IEP RGD PMID:24429330 RGD:9681736 NCBI chr13:88,314,735...88,316,354
Ensembl chr13:88,293,188...88,317,807 		JBrowse link
G Angpt2 angiopoietin 2 IEP mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr16:77,790,760...77,841,241
Ensembl chr16:77,790,563...77,841,239 		JBrowse link
G Arrb1 arrestin, beta 1 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:163,249,654...163,321,711
Ensembl chr 1:163,250,157...163,340,859 		JBrowse link
G Arrb2 arrestin, beta 2 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr10:55,645,539...55,653,485
Ensembl chr10:55,645,357...55,653,487 		JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Des desmin IEP RGD PMID:10591032 RGD:13525010 NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP
ISO 		protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO 		RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Rbp4 retinol binding protein 4 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:245,306,349...245,313,898 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:149,978,685...149,985,452 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO 		protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
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 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
esophageal atresia/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: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:80,333,242...80,401,641
Ensembl chr14:80,333,244...80,391,732 		JBrowse link
G Amer3 APC membrane recruitment protein 3 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:44,286,274...44,298,246
Ensembl chr 9:44,268,722...44,351,398 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:10,043,010...10,065,037
Ensembl chr 7:10,043,010...10,065,210 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA ClinVar PMID:8673090 PMID:8988179 PMID:9150172 PMID:9667259 PMID:9792861 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 2:198,717,333...198,741,689
Ensembl chr 2:198,717,896...198,741,581 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:44,351,841...44,377,086
Ensembl chr11:44,351,851...44,377,086 		JBrowse link
G Gli2 GLI family zinc finger 2 IEP RGD PMID:12947339 RGD:12801415 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:56,836,584...56,908,861
Ensembl chr 9:56,836,584...56,908,861 		JBrowse link
G Gtf3c1 general transcription factor IIIC subunit 1 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:189,634,645...189,700,848
Ensembl chr 1:189,634,645...189,700,995 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:65,699,284...65,721,062 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:44,464,515...44,646,598
Ensembl chr11:44,513,186...44,646,598 		JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:172,095,701...172,101,945
Ensembl chr 5:172,094,940...172,101,195 		JBrowse link
G Lurap1l leucine rich adaptor protein 1-like ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:100,402,921...100,455,479
Ensembl chr 5:100,407,483...100,455,478 		JBrowse link
G Nog noggin ISO
ISS 		OMIM:189960 MouseDO
RGD		 PMID:17260385 RGD:12801454 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA ClinVar PMID:17200668 PMID:23824750 PMID:25085752 PMID:25741868 PMID:26283626 More... NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302 		JBrowse link
G Pcdh1 protocadherin 1 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr18:30,258,154...30,290,828
Ensembl chr18:30,258,154...30,290,436 		JBrowse link
G Pik3c2g phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 4:174,215,527...174,583,378
Ensembl chr 4:174,215,527...174,581,705 		JBrowse link
G Polr2b RNA polymerase II subunit B ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:31,151,534...31,189,222
Ensembl chr14:31,151,390...31,189,222 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:103,799,473...103,951,708
Ensembl chr13:103,799,494...103,951,708 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr13:99,288,984...99,362,817
Ensembl chr13:99,288,647...99,361,053 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA ClinVar PMID:25741868 PMID:28492532 PMID:36135330 PMID:36474027 NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:126,533,560...126,691,971 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:25003913 RGD:12801416 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:28492532 PMID:32641753 PMID:35519826 NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149 		JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr12:15,504,456...15,534,541
Ensembl chr12:15,505,343...15,534,116 		JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:7,873,946...8,115,002
Ensembl chr14:7,911,151...8,114,993 		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: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: OCULODIGITOESOPHAGODUODENAL SYNDROME | ClinVar Annotator: match by term: ODED SYNDROME 		CTD
ClinVar		 PMID:1459449 PMID:15821734 PMID:18470948 PMID:18671284 PMID:19852433 More... NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		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 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		JBrowse link
Intestinal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 IEP mRNA, protein:increased expression:colon (rat) RGD PMID:12654563 RGD:4144044 NCBI chr 1:22,295,093...22,307,720
Ensembl chr 1:22,295,322...22,307,713 		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 chr20:31,562,490...31,615,967
Ensembl chr20:31,562,490...31,615,967 		JBrowse link
Pancreatic Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin spontaneous ISO associated with Postoperative Complications; RGD PMID:23225108 RGD:11035295 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865 		JBrowse link
Tracheoesophageal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:16818050 RGD:2289003 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090 PMID:8988179 PMID:9150172 PMID:9667259 PMID:9792861 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		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 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:17200668 PMID:23824750 PMID:25085752 PMID:25741868 PMID:26283626 More... NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:224,264,678...224,694,347 		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 5:158,798,503...158,799,451
Ensembl chr 5:158,798,287...158,804,132 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		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 chr14:104,449,403...104,515,297
Ensembl chr14:104,394,590...104,515,297 		JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:66,062,635...66,066,427
Ensembl chr19:66,062,369...66,066,428 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: VATER association
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:19006232 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823 		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 1:224,263,823...224,694,350
Ensembl chr 1:224,264,678...224,694,347 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:70,500,060...70,537,711
Ensembl chr13:70,500,060...70,537,733 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,970,995...12,005,355 		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 6:78,124,872...78,247,672
Ensembl chr 6:78,124,872...78,247,648 		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:33,035,387...33,051,993
Ensembl chr  X:33,035,387...33,051,808 		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 chr14:104,449,403...104,515,297
Ensembl chr14:104,394,590...104,515,297 		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 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:24429398 PMID:25741868 PMID:28492532 NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
G Zic3 Zic family member 3 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 		OMIM
CTD
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:141,149,594...141,170,464 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Anatomical Pathological Conditions 1890
        Fistula 67
          Cutaneous Fistula 0
          Digestive System Fistula + 51
          Lachiewicz Sibley Syndrome 0
          Oral Fistula + 0
          Respiratory Tract Fistula + 50
          Urinary Fistula + 0
          Vaginal Fistula + 0
          Vascular Fistula + 15
          Zuska's Disease 0
paths to the root