Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome

Preferred Label : Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome;

NCIt related terms : WAGRO; WAGRO Syndrome; Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome;

NCIt definition : A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.;

Alternative definition : NICHD: A condition resembling WAGR (Wilms tumor, aniridia, genitourinary anomalies and developmental delay) syndrome that also includes obesity. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13-p12 in a region containing the WT1, PAX6 and BDNF genes.;

Details

Origin ID

C122804;

UMLS CUI

C2675904;

Currated CISMeF NLP mapping
- Wagro syndrome [OMIM Phenotype]
- wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome [MeSH Supplementary Concept]
- wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wagro syndrome [OMIM Phenotype]
- wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome [MeSH Supplementary Concept]
- wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- BDNF Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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