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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:VACTERL association
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Accession:DOID:14679 term browser browse the term
Definition:A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. (DO)
Synonyms:exact_synonym: VACTEL association;   VACTERL Syndrome;   VACTERL/VATER association;   VATER Association;   Vertebral Anal Tracheoesophageal Esophageal Radial anomalies;   vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia
 related_synonym: VATER syndrome
 primary_id: MESH:C536495;   MESH:C536534
 alt_id: OMIM:192350
 xref: GARD:5443
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
VACTERL association term browser
Symbol Object Name 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 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:11238682, PMID:11685670, PMID:11748304, PMID:12844284, PMID:14518070, PMID:15805158, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17942903, PMID:19265751, PMID:19668082, PMID:21194675, PMID:21828076, PMID:21956414, PMID:22252256, PMID:22381246, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:27477328, PMID:27535533, 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 16103
    syndrome 6989
      VACTERL association 17
        X-linked VACTERL association 6
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        Gastrointestinal Diseases 2598
          intestinal disease 1495
            rectal disease 869
              anus disease 65
                imperforate anus 53
                  VACTERL association 17
                    X-linked VACTERL association 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.