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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: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)