OBO ID: DOID:0060476
Term Name: Perlman syndrome Search Ontology:
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 Perlman syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DIS3L2 Perlman syndrome 267000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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