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Metadata
DOID DOID:14515
Name WAGR 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.
http://en.wikipedia.org/wiki/WAGR_syndrome
Xrefs

GARD:5528

MESH:D017624

NCI2004_11_17:C3718

NCI:C3718

OMIM:194072

SNOMEDCT_US_2018_03_01:4135001

UMLS_CUI:C0206115

Subsets

NCIthesaurus

Synonyms

11p partial monosomy syndrome [EXACT]

chromosome 11p13 deletion syndrome [EXACT]

Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome [EXACT]

Relationships

is_a chromosomal deletion syndrome

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