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WAGR syndrome
Summary
- Synonym
-
- 11p partial monosomy syndrome
- Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
- chromosome 11p13 deletion syndrome
- 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.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:14515
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
