Disease association ontology term - MONDO:0009965 - Perlman syndrome
Term summary
- ID
- MONDO:0009965
- Name
- Perlman syndrome
- Ontology or CV name
- Disease association
- Definition
- Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.