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DO Term : Perlman syndrome [DOID:0060476] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
OMIM:267000,
ICD10CM:Q87.3,
nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor,
MESH:C536399,
GARD:3936,
ORDO:2849,
nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor,
267000,
renal hamartomas, nephroblastomatosis and fetal gigantism

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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