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
Accession: DOID:14679
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 ; NCI:C99105
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
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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
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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
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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
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Ift172
intraflagellar transport 172
ISS
OMIM:192350 | OMIM:276950
MouseDO
NCBI chr 6:26,390,686...26,485,459
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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