{"orpha":3271,"name":"Radio-ulnar synostosis-retinal pigment abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Buntinx-Lormans-Martin syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome","url":"https://raremap.alftech.space/d/ORPHA-3271/","orphanet_url":"https://www.orpha.net/en/disease/detail/3271","names":{"fr":{"name":"Syndrome de synostose radio-cubitale-rétinite pigmentaire","synonyms":["Syndrome de Buntinx-Lormans-Martin"]},"de":{"name":"Radioulnare Synostose - Retinapigmentanomalien","synonyms":["Buntinx-Lormans-Martin-Syndrom"]},"es":{"name":"Síndrome de sinostosis radiocubital-anomalías del pigmento retiniano"},"it":{"name":"Sinostosi radiocubitale - retinite pigmentosa","synonyms":["Sindrome di Buntinx-Lormans-Martin"]},"nl":{"name":"Radio-ulnaire synostose - retinale pigmentafwijkingen-syndroom","synonyms":["Syndroom van Buntinx-Lormans-Martin"]},"pt":{"name":"Síndrome de sinostose radio-cubital-anomalias do pigmento da retina","synonyms":["Síndrome Buntinx-Lormans-Martin"]},"pl":{"name":"Synostoza promieniowo-łokciowa - zaburzenia barwnikowe siatkówki","synonyms":["Zespół Buntinx, Lormansa i Martina"]},"cs":{"name":"Syndrom zahrnující radioulnární synostózu a abnormality sítnicového pigmentu","synonyms":["Buntinxův-Lormansův-Martinův syndrom","Buntinx-Lormans-Martinův syndrom"]},"uk":{"name":"Синдром радіоульнарного синостозу - аномалії пігменту сітківки","synonyms":["Синдром Бантинкса-Лорманса-Мартіна"]},"zh":{"name":"桡-尺骨融合-视网膜色素异常综合征","synonyms":["Buntinx-Lormans-Martin 综合征"]},"tr":{"name":"Radio-ulnar sinostoz-retina pigment anormallikleri sendromu","synonyms":["Buntinx-Lormans-Martin sendromu"]}},"xrefs":[{"source":"MeSH","code":"C536270","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931149","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":193,"name":"Cohen syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}