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ONTOLOGY REPORT - ANNOTATIONS


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 6 75,345,153 75,350,544 RGD:9068941
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 9 33,720,920 34,039,954 RGD:9068941
G FN1 fibronectin 1 JBrowse link 15 117,658,158 117,737,145 RGD:9068941
G FOXF1 forkhead box F1 JBrowse link 6 2,579,348 2,598,122 RGD:9068941
G HOXD13 homeobox D13 JBrowse link 15 81,893,997 81,897,965 RGD:9068941
G IFT172 intraflagellar transport 172 JBrowse link 3 111,683,674 111,718,504 RGD:9068941
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 228,854,587 229,308,054 RGD:9068941
G QSOX1 quiescin sulfhydryl oxidase 1 JBrowse link 9 121,779,072 121,822,829 RGD:9068941
G SHH sonic hedgehog signaling molecule JBrowse link 18 2,546,202 2,555,484 RGD:9068941
G TBC1D32 TBC1 domain family member 32 JBrowse link 1 41,057,782 41,265,416 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11675
    syndrome 4308
      VACTERL association 10
Path 2
Term Annotations click to browse term
  disease 11675
    disease of anatomical entity 11313
      gastrointestinal system disease 3703
        Gastrointestinal Diseases 2184
          intestinal disease 1213
            rectal disease 755
              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.