Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome

Preferred Label : Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome;

Symbol : WAGR;

CISMeF acronym : WAGR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 11p13 deletion syndrome; Wagr syndrome; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by microdeletions of 11p13; Caused by mutations in the Wilms tumor 1 gene (WT1, 607102.0001).;

Neoplasia : Nephroblastoma (Wilms tumor);

Prefixed ID : #194072;

Details

Origin ID

194072;

UMLS CUI

C0206115;

Automatic exact mappings (from CISMeF team)
- PAX6 wt Allele [NCIt concept]
- WT1 transcription factor [ORDO Gene]
- WT1 transcription factor [HGNC gene]
- WT1 wt Allele [NCIt concept]
- paired box 6 [ORDO Gene]
- paired box 6 [HGNC gene]
CISMeF manual mappings
- Chromosome 11p13 deletion syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- WAGR Syndrome [NCIt concept]
- WAGR syndrome [PASCAL descriptor]
- WAGR syndrome [DO Concept]
- WAGR syndrome [Disease (Nov.)]
- WAGR syndrome [ICD-11 More detail]
- WAGR syndrome [MeSH concept]
- WAGR syndrome [ORDO Disease]
- wagr syndrome [MeSH Descriptor]
DO Cross reference
- WAGR syndrome [DO Concept]
HPO term(s)
- Abnormal vagina morphology [HPO term]
- Abnormality of the uterus [HPO term]
- Aniridia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Contiguous gene syndrome [HPO term]
- Cryptorchidism [HPO term]
- Gonadoblastoma [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Nephroblastoma [HPO term]
- Nephropathy [HPO term]
- Obesity [HPO term]
- Renal insufficiency [HPO term]
- Somatic mutation [HPO term]
- Streak ovary [HPO term]
ORDO concept(s)
- WAGR syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 11p partial monosomy syndrome [SNOMED Notion]
- 11p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Chromosome 11p13 deletion syndrome (disorder) [SNOMED CT concept]
- WAGR Syndrome [NCIt concept]
- WAGR syndrome [ORDO Disease]
- WAGR syndrome [MeSH concept]
- WAGR syndrome [DO Concept]
- WAGR syndrome [PASCAL descriptor]
- WAGR syndrome [Disease (Nov.)]
- wagr syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients