# Perlman syndrome

> 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

**Wikidata**: [Q7169165](https://www.wikidata.org/wiki/Q7169165)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Perlman_syndrome)  
**Source**: https://4ort.xyz/entity/perlman-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/e68b93df-e0e7-4d46-8934-8b86064c0b37--2019-11-21T19:30:52)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e68b93df-e0e7-4d46-8934-8b86064c0b37-2019-11-21T193052.781Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000144535/MONDO_0009965)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)