{"orpha":166011,"name":"Multiple epiphyseal dysplasia, Beighton type","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Multiple epiphyseal dysplasia-myopia-deafness syndrome","Multiple epiphyseal dysplasia-myopia-hearing loss syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Stickler syndrome","url":"https://raremap.alftech.space/d/ORPHA-166011/","orphanet_url":"https://www.orpha.net/en/disease/detail/166011","names":{"fr":{"name":"Dysplasie épiphysaire multiple type Beighton","synonyms":["Syndrome de dysplasie épiphysaire multiple-myopie-surdité"]},"de":{"name":"Dysplasie, epiphysäre multiple, Typ Beighton","synonyms":["Dysplasie, epiphysäre multiple - Myopie - Schwerhörigkeit"]},"es":{"name":"Displasia epifisaria múltiple tipo Beighton","synonyms":["Síndrome de displasia epifisaria múltiple-miopía-hipoacusia","Síndrome de displasia epifisaria múltiple-miopía-sordera"]},"it":{"name":"Displasia epifisaria multipla, tipo Beighton","synonyms":["Displasia epifisaria multipla - miopia - sordità"]},"nl":{"name":"Multipele epifysaire dysplasie, Beighton-type","synonyms":["Meervoudige epifysaire dysplasie - myopie - doofheid-syndroom","Meervoudige epifysaire dysplasie - myopie - gehoorverlies-syndroom","Meervoudige epifysaire dysplasie, Beighton-type"]},"pt":{"name":"Displasia epifisária múltipla, tipo Beighton"},"pl":{"name":"Dysplazja wielonasadowa, typ Beightona","synonyms":["Dysplazja wielonasadowa - miopia - głuchota"]},"cs":{"name":"Mnohočetná epifyzární dysplázie, Beightonův typ","synonyms":["Syndrom zahrnující mnohočetnou epifyzární dysplázii, myopii a hluchotu","Epifyzární dysplázie, Beightonův typ"]},"uk":{"name":"Множинна епіфізарна дисплазія, тип Бейтона","synonyms":["Синдром множинної епіфізарної дисплазії-міопії-глухоти","Синдром множинної епіфізарної дисплазії-міопії-глухоти"]},"zh":{"name":"Beighton 型多发性骨骺发育不良","synonyms":["多发性骨骺发育不良-近视-听力损失综合征"],"definition":"Beighton型多发性骨骺发育不良是一种以骨骺发育不良(常为轻度)为特征的骨骼发育不良，伴进行性近视、视网膜变薄、锯齿缘白内障、传导性耳聋和短指。"},"tr":{"name":"Çoklu epifiz displazisi, Beighton tipi","synonyms":["çoklu epifizeal displazi-miyopi-sağırlık sendromu","çoklu epifizeal displazi-miyopi-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"132450","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0007562","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304499","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":828,"name":"Stickler syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}