Search Ontology:
Human Disease

Perlman syndrome

Term ID
DOID:0060476
Synonyms
  • nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
  • nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
  • renal hamartomas, nephroblastomatosis and fetal gigantism
Definition
A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (3)
References
Ontology
Human Disease   ( DOID:0060476 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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