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

Echinobase Genes :


OMIM:
MIM:267000 - perlman syndrome; prlmns

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

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