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WAGR syndrome

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.
Disease Ontology Description A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
Mondo Term and Equivalent IDs
MONDO:0008681:  WAGR syndrome
GARD:0001732: 
GARD:0005528: 
MESH:D017624: 
NCIT:C3718: 
Orphanet:893: 
SCTID:715215007: 
UMLS:C0206115: 
UMLS:C2931803: