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VACTERL/vater association

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


GARD Rare
Mondo Description VACTERL/VATER is an association of congenital malformations typically 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.
Uniprot Description VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008642:  VACTERL/vater association
GARD:0005443: 
NCIT:C99105: 
Orphanet:887: 
SCTID:27742002: 
UMLS:C0220708: 
UMLS:C1735591: 
UMLS:CN206312: