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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;   RDO:0002097;   RDO:0002146
 xref: GARD:5443
For additional species annotation, visit the Alliance of Genome Resources.

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VACTERL association term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane2 ciliogenesis and planar polarity effector 2 JBrowse link 5 159,735,008 159,735,956 RGD:13592920
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:13592920
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:7205466
G Foxf1 forkhead box F1 JBrowse link 19 53,012,306 53,016,100 RGD:8554872
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:13592920
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Qsox1 quiescin sulfhydryl oxidase 1 JBrowse link 13 73,423,396 73,460,890 RGD:13592920
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801426
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      VACTERL association 10
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      gastrointestinal system disease 4483
        Gastrointestinal Diseases 2429
          intestinal disease 1404
            rectal disease 809
              anus disease 57
                imperforate anus 47
                  VACTERL association 10
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.