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Summary Literature (0)
DOID:0060476 - Perlman syndrome


Disease Ontology 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.

Synonyms: nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor, nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor, renal hamartomas, nephroblastomatosis and fetal gigantism

Xenbase Genes : dis3l2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009965 - Perlman syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)