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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;   RDO:0002396
For additional species annotation, visit the Alliance of Genome Resources.


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Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 5:3,689,999...3,803,124
Ensembl chr 5:3,690,000...3,802,925
JBrowse link
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 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
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 (peptidyl-dipeptidase A) 1 treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:22768235, PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:173,331,886...173,333,503
Ensembl chr 1:173,331,886...173,333,750
JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Arrb1 arrestin, beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 7:99,535,147...99,606,772
Ensembl chr 7:99,535,466...99,606,771
JBrowse link
G Arrb2 arrestin, beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:70,432,485...70,440,828
Ensembl chr11:70,432,635...70,440,828
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 1:75,360,292...75,368,579
Ensembl chr 1:75,360,329...75,368,579
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA
protein:increased expression:ileal vein RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO
IDA
RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Timp4 tissue inhibitor of metalloproteinase 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 6:115,244,444...115,252,205
Ensembl chr 6:115,241,892...115,252,205
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343, PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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 treatment ISO RGD PMID:24647564 RGD:8661658 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 breast cancer 2, early onset 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:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 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 chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
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 chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO RGD PMID:12947339 RGD:12801415 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G Nog noggin IMP
IEA
OMIM:189960 MouseDO PMID:17260385 RGD:12801454 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G Shh sonic hedgehog ISO RGD PMID:25003913 RGD:12801416 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:19852433 PMID:21532573 NCBI chr12:12,936,093...12,941,836
Ensembl chr12:12,936,093...12,941,914
JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Feingold syndrome 1 ClinVar
OMIM
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:25741868 NCBI chr12:12,936,093...12,941,836
Ensembl chr12:12,936,093...12,941,914
JBrowse link
Feingold Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir17hg Mir17 host gene (non-protein coding) ISO ClinVar Annotator: match by term: Feingold syndrome 2 OMIM
ClinVar
PMID:21892160 PMID:23495052 PMID:25741868 NCBI chr14:115,044,390...115,046,728
Ensembl chr14:115,042,879...115,046,727
JBrowse link
Intestinal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase, liver ISO mRNA, protein:increased expression:colon (rat) RGD PMID:12654563 RGD:4144044 NCBI chr10:24,915,207...24,927,470
Ensembl chr10:24,915,221...24,927,484
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 chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
Tracheoesophageal Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 (alpha) ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:34,573,664...34,632,308
Ensembl chr 5:34,573,664...34,632,308
JBrowse link
G Amer3 APC membrane recruitment 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:34,578,907...34,590,944
Ensembl chr 1:34,579,657...34,590,944
JBrowse link
G Ap1g2 adaptor protein complex AP-1, gamma 2 subunit ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr14:55,098,835...55,106,593
Ensembl chr14:55,098,575...55,106,593
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr10:80,295,956...80,318,257
Ensembl chr10:80,295,977...80,318,263
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:16818050 RGD:2289003 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 PMID:11307153 PMID:15070707 PMID:15340362 PMID:15382066 PMID:16168118 PMID:16683254 PMID:17148771 PMID:17972171 PMID:18042939 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 chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
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 chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
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 3:108,390,848...108,416,069
Ensembl chr 3:108,390,851...108,415,552
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr11:102,838,472...102,880,984
Ensembl chr11:102,838,473...102,880,985
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 chr 7:130,162,451...130,266,808
Ensembl chr 7:130,162,451...133,123,350
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr16:91,621,395...91,646,972
Ensembl chr16:91,621,186...91,646,952
JBrowse link
G Gls glutaminase ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:52,163,449...52,235,009
Ensembl chr 1:52,163,448...52,233,232
JBrowse link
G Gtf3c1 general transcription factor III C 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 7:125,640,954...125,707,688
Ensembl chr 7:125,640,954...125,707,780
JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 8:120,736,358...120,756,694
Ensembl chr 8:120,736,358...120,756,694
JBrowse link
G Itsn1 intersectin 1 (SH3 domain protein 1A) ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr16:91,729,310...91,920,591
Ensembl chr16:91,729,281...91,920,597
JBrowse link
G Klhl17 kelch-like 17 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 4:156,229,044...156,234,857
Ensembl chr 4:156,221,456...156,234,857
JBrowse link
G Lurap1l leucine rich adaptor protein 1-like ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 4:80,910,686...80,954,301
Ensembl chr 4:80,910,646...80,955,628
JBrowse link
G Pcdh1 protocadherin 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr18:38,185,914...38,212,048
Ensembl chr18:38,185,914...38,212,053
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,432,314...17,837,712
Ensembl chr19:17,432,319...17,837,632
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 6:139,614,072...139,969,284
Ensembl chr 6:139,587,221...139,969,284
JBrowse link
G Polr2b polymerase (RNA) II (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:77,310,484...77,349,328
Ensembl chr 5:77,310,147...77,349,324
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:189,728,216...189,876,695
Ensembl chr 1:189,728,268...189,876,695
JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 1:185,204,088...185,286,756
Ensembl chr 1:185,204,117...185,286,759
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:63,953,076...64,022,085
Ensembl chr 9:63,953,076...64,022,059
JBrowse link
G Tecpr1 tectonin beta-propeller repeat containing 1 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:144,194,442...144,223,615
Ensembl chr 5:144,194,442...144,223,615
JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Tracheoesophageal fistula ClinVar PMID:32641753 NCBI chr 5:101,832,953...102,072,215
Ensembl chr 5:101,832,956...102,069,921
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 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr 4:141,213,940...141,220,114
Ensembl chr 4:141,213,956...141,226,756
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr 9:6,928,550...7,178,306
Ensembl chr 9:6,928,503...7,184,446
JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25754594 NCBI chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 1:71,585,473...71,653,280
Ensembl chr 1:71,585,520...71,653,200
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr 8:121,084,386...121,088,154
Ensembl chr 8:121,084,386...121,088,144
JBrowse link
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19006232 NCBI chr 2:74,668,225...74,671,603
Ensembl chr 2:74,668,310...74,671,599
JBrowse link
G Ift172 intraflagellar transport 172 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:31,253,279...31,291,391
Ensembl chr 5:31,253,277...31,291,116
JBrowse link
G Notch2 notch 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr 3:98,013,538...98,150,367
Ensembl chr 3:98,013,527...98,150,361
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO
IEA
IAGP
CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)
CTD
MouseDO
PMID:18519639, PMID:18519639 RGD:11556208 NCBI chr19:17,432,314...17,837,712
Ensembl chr19:17,432,319...17,837,632
JBrowse link
G Qsox1 quiescin Q6 sulfhydryl oxidase 1 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr 1:155,778,155...155,812,899
Ensembl chr 1:155,776,029...155,812,889
JBrowse link
G Shh sonic hedgehog ISO RGD PMID:12632369 RGD:12801426 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 IEA OMIM:192350 | OMIM:276950 MouseDO NCBI chr10:56,014,293...56,228,968
Ensembl chr10:56,014,293...56,228,689
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 chr12:54,892,989...55,014,371
Ensembl chr12:54,892,989...55,014,348
JBrowse link
G Fancb Fanconi anemia, 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:164,980,480...164,997,272
Ensembl chr  X:164,980,592...164,997,272
JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
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 chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 8:89,027,242...89,044,162
Ensembl chr 8:89,027,235...89,044,162
JBrowse link
G Zic3 zinc finger protein of the cerebellum 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:58,030,628...58,036,630
Ensembl chr  X:58,022,700...58,041,736
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14322
    Pathological Conditions, Signs and Symptoms 9164
      Anatomical Pathological Conditions 1528
        Fistula 65
          Cutaneous Fistula 0
          Digestive System Fistula + 49
          Lachiewicz Sibley Syndrome 0
          Oral Fistula + 0
          Respiratory Tract Fistula + 48
          Urinary Fistula + 0
          Vaginal Fistula + 0
          Vascular Fistula + 15
          Zuska's Disease 0
paths to the root