has material basis in germline mutation in PTEN syndromic intellectual disability vascular disorder Bannayan-Riley-Ruvalcaba syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6740 https://github.com/monarch-initiative/mondo/issues/6743 https://github.com/monarch-initiative/mondo/issues/9097 https://github.com/monarch-initiative/mondo/issues/9602 https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome https://www.malacards.org/card/cowden_syndrome_1 Bannayan-Zonana syndrome Ruvalcaba -Myhre-Smith syndrome macrocephaly, multiple lipomas, and hemangiomata NORD:1684 MONDO:0007924 SCTID:21984008 macrocephaly multiple lipomas and hemangiomata RMSS Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. icd11.foundation:357383447 BRRS Ruvalcaba-MYHRE-SMITH syndrome macrocephaly with multiple lipomas and hemangiomas DOID:0050657 GARD:0005887 ICD9:759.6 RILEY-SMITH syndrome Orphanet:109 NCIT:C3939 MEDGEN:78554 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) macrocephaly pseudopapilledema and multiple hemangiomas BZS Bannayan-Riley-Ruvalcaba syndrome Riley-Smith syndrome Bannayan syndrome Ruvalcaba-Myhre-Smith syndrome OMIM:153480 Myhre-Riley-Smith syndrome UMLS:C0265326 ICD10CM:E71.440 macrocephaly, pseudopapilledema, and multiple hemangiomata multiple congenital anomalies/dysmorphic syndrome-intellectual disability intestinal polyposis syndrome PTEN hamartoma tumor syndrome overgrowth syndrome