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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.

Parents

Annotation

Disease association

MONDO:0009965 - Perlman syndrome

References:

Genes: