{"orpha":1240,"name":"Metaphyseal acroscyphodysplasia","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Bellini syndrome","Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acrodysostosis","url":"https://raremap.alftech.space/d/ORPHA-1240/","orphanet_url":"https://www.orpha.net/en/disease/detail/1240","names":{"fr":{"name":"Acroscyphodysplasie métaphysaire","synonyms":["Syndrome de Bellini"]},"de":{"name":"Akroscyphodysplasie, metaphysäre","synonyms":["Bellini-Syndrom","Syndromale Intelligenzminderung mit Kleinwuchs und keilförmigen Epiphysen der Knie"]},"es":{"name":"Acroesquifodisplasia metafisaria","synonyms":["Síndrome de Bellini","Síndrome de discapacidad intelectual-talla baja-epífisis de las rodillas en forma de cuña"]},"it":{"name":"Acroscifodisplasia metafisaria","synonyms":["Sindrome di Bellini"]},"nl":{"name":"Metafysaire acroscyfodysplasie","synonyms":["Intellectuele achterstand - kleine gestalte - wigvormige epifysen van knieën-syndroom","Syndroom van Bellini"]},"pt":{"name":"Acrosquifodisplasia metafisária","synonyms":["Síndrome Bellini","Síndrome de perturbação do desenvolvimento intelectual-baixa estatura-epífises dos joelhos em cunha"]},"pl":{"name":"Przynasadowa dysplazja kubkowa kończyn","synonyms":["Niepełnosprawność intelektualna - niski wzrost - klinowate nasady kości kolan","Zespół Belliniego"]},"cs":{"name":"Metafyzární akroskyfodysplázie","synonyms":["Belliniho syndrom","Syndrom zahrnující mentální retardaci, malý vzrůst a klínovité epifýzy kolen"]},"uk":{"name":"Метафізарна акроскіфодисплазія","synonyms":["Синдром Белліні","Синдром інтелектуальної недостатності - низького зросту-клиноподібних епіфізів колінних суглобів"]},"zh":{"name":"干骺端肢端发育异常","synonyms":["智能障碍-身材矮小-膝关节楔形骨骺综合征"]},"tr":{"name":"Metafiz akrosifodisplazi","synonyms":["Bellini sendromu","Zihinsel yetersizlik-kısa boy-kama şeklindeki diz sendromu epifizleri"]}},"xrefs":[{"source":"OMIM","code":"250215","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0009592","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537350","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855243","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3519","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":950,"name":"Acrodysostosis"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}