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Disease Ontology Term: WAGR syndrome

DO ID
DOID:14515
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.
Synonyms
11p partial monosomy syndrome, chromosome 11p13 deletion syndrome, Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
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Computational

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Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference