RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus