About: Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome
equivalentClass
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome
UMLS_CUI
  • C0206115
Contributing_Source
  • NICHD
ALT_DEFINITION
  • A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of Wilms' tumor (W), ANIRIDIA (A), genitourinary abnormalities (G), and MENTAL RETARDATION (R).MSH2003_2003_05_12
  • A rare, genetic disorder that is present at birth and has two or more of the following symptoms: Wilms tumor (a type of kidney cancer); little or no iris (the colored part of the eye); defects in the sexual organs and urinary tract (the organs that make urine and pass it from the body); and below average mental ability. This syndrome occurs when part of chromosome 11 is missing.NCI-GLOSS
Legacy_Concept_Name
  • Wilms_Tumor-Aniridia-Genitourinary_Anomalies-Mental_Retardation_Syndrome
FULL_SYN
  • Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndromePTNCI-GLOSSCDR0000482350
  • WAGR SyndromeSYNCI
  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation SyndromePTNCI
  • WAGR syndromePTNCI-GLOSSCDR0000559084
  • 11p Partial Monosomy SyndromePTNICHD
DEFINITION
  • A very rare congenital condition involving the complex of Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities.NCI
code
  • C3718
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