{"orpha":50816,"name":"Spondylometaphyseal dysplasia with combined immunodeficiency","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Roifman-Melamed syndrome","SPENCDI","Spondyloenchondrodysplasia with immune dysregulation"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloenchondrodysplasia","url":"https://raremap.alftech.space/d/ORPHA-50816/","orphanet_url":"https://www.orpha.net/en/disease/detail/50816","names":{"fr":{"name":"Syndrome de dysplasie spondylo-métaphysaire-déficit immunitaire combiné","synonyms":["SPENCDI","Syndrome de Roifman-Melamed"]},"de":{"name":"Spondylometaphysäre Dysplasie mit kombinierten Immundefekt","synonyms":["Roifman-Melamed-Syndrom"]},"es":{"name":"Displasia espondilometafisaria con inmunodeficiencia combinada","synonyms":["Espondiloencondrodisplasia con inmunodeficiencia combinada","SPENCDI","Síndrome de Roifman-Melamed"]},"it":{"name":"Displasia spondilometafisaria con immunodeficienza combinata","synonyms":["SPENCDI","Sindrome di Roifman-Melamed","Spondiloencondrodisplasia con disregolazione immunitaria"]},"nl":{"name":"Spondylometafysaire dysplasie met gecombineerde immuundeficiëntie","synonyms":["SPENCDI","Spondylo-enchondrodysplasie met immuundisregulatie","Syndroom van Roifman-Melamed"]},"pt":{"name":"Displasia espondilo-metafisária com imunodeficiência combinada","synonyms":["Síndrome Roifman-Melamed"]},"pl":{"name":"Dysplazja kręgosłupowo-przynasadowa ze złożonym niedoborem odporności","synonyms":["SPENCDI","Spondyloenchondrodysplasia with immune dysregulation","Zespół Roifmana i Melameda"]},"cs":{"name":"Spondylometafyzární dysplázie s kombinovanou imunodeficiencí","synonyms":["SPENCDI","Spondyloenchondrodysplázie s dysregulací imunity","Roifmanův-Melamedův syndrom","Roifman-Melamedův syndrom"]},"uk":{"name":"Спондилометафізарна дисплазія з комбінованим імунодефіцитом","synonyms":["Синдром Ройфмана-Меламеда","SPENCDI","Спондилоенхондродисплазія з імунною дисрегуляцією"]},"zh":{"name":"脊椎干骺端发育不良伴联合免疫缺陷","synonyms":["脊柱骨软骨发育不良伴免疫功能异常"]},"tr":{"name":"Spondilometafizer displazi ile seyreden kombine immün yetmezlik","synonyms":["SPENCDI","Roifman-Melamed sendromu","İmmün düzensizlik ile seyreden spondiloenkondrodisplazi"]}},"xrefs":[{"source":"UMLS","code":"C1842763","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":1855,"name":"Spondyloenchondrodysplasia"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}