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
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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
RGD:11554173
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
RGD:11556208
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
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  disease 14875
    syndrome 4220
      VACTERL association 10
Path 2
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  disease 14875
    disease of anatomical entity 14051
      gastrointestinal system disease 4251
        Gastrointestinal Diseases 2349
          intestinal disease 1304
            rectal disease 791
              anus disease 61
                imperforate anus 51
                  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.