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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 2 81,468,095 81,473,646 RGD:9068941
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 5 28,566,604 28,727,416 RGD:9068941
G FN1 fibronectin 1 JBrowse link 37 22,456,854 22,522,410 RGD:9068941
G FOXF1 forkhead box F1 JBrowse link 5 66,343,776 66,347,785 RGD:9068941
G HOXD13 homeobox D13 JBrowse link 36 19,901,184 19,903,837 RGD:9068941
G IFT172 intraflagellar transport 172 JBrowse link 17 21,389,462 21,426,970 RGD:9068941
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 82,088,090 82,506,131 RGD:9068941
G QSOX1 quiescin sulfhydryl oxidase 1 JBrowse link 7 13,718,799 13,754,115 RGD:9068941
G SHH sonic hedgehog signaling molecule JBrowse link 16 18,650,553 18,663,571 RGD:9068941
G TBC1D32 TBC1 domain family member 32 JBrowse link 1 60,662,704 60,873,881 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11727
    syndrome 4315
      VACTERL association 10
Path 2
Term Annotations click to browse term
  disease 11727
    disease of anatomical entity 11360
      gastrointestinal system disease 3734
        Gastrointestinal Diseases 2201
          intestinal disease 1216
            rectal disease 755
              anus disease 55
                imperforate anus 47
                  VACTERL association 10
paths to the root


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