FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term WAGR syndrome ID (Ontology) DOID:14515 (Human Disease)
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.
Also Known As "11p partial monosomy syndrome" ; "chromosome 11p13 deletion syndrome" ; "Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome"
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__WAGR syndrome
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Is a chromosomal deletion syndrome
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Synonyms
  • "11p partial monosomy syndrome" EXACT
    "chromosome 11p13 deletion syndrome" EXACT
    "Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome" EXACT
Secondary IDs
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GARD:5528
MESH:D017624
MIM:194072
NCI:C3718
SNOMEDCT_US_2023_03_01:715215007
UMLS_CUI:C0206115