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DO Term : WAGR syndrome [DOID:14515] Disease Ontology

Namespace  disease_ontology Obsolete  false
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:
  • 194072,
  • GARD:5528,
  • MESH:D017624,
  • NCI:C3718,
  • OMIM:194072,
  • chromosome 11p13 deletion syndrome,
  • SNOMEDCT_US_2023_03_01:715215007,
  • Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome,
  • UMLS_CUI:C0206115,
  • 11p partial monosomy syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents