# Bannayan-Riley-Ruvalcaba syndrome

> a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

**Wikidata**: [Q474254](https://www.wikidata.org/wiki/Q474254)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Bannayan–Riley–Ruvalcaba_syndrome)  
**Source**: https://4ort.xyz/entity/bannayan-riley-ruvalcaba-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. Germline mutations in PTEN are present in Bannayan-Zonana syndrome
5. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171862/MONDO_0007924)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)