Summary Literature (0)

DOID:14515 - WAGR syndrome

Disease Ontology Definition: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.

Synonyms: 11p partial monosomy syndrome (disorder), Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome, chromosome 11p13 deletion syndrome,

Echinobase Genes : pax6


OMIM:

MIM:194072 - wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; wagr

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee