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Frasier syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.
Uniprot Description Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant.
Disease Ontology Description An autosomal dominant disease that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
Mondo Term and Equivalent IDs
MONDO:0007635:  Frasier syndrome
GARD:0002375: 
MESH:D052159: 
NCIT:C122805: 
Orphanet:347: 
SCTID:445431000: 
UMLS:C0950122: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)