{"orpha":90114,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CMTDI"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-90114/","orphanet_url":"https://www.orpha.net/en/disease/detail/90114","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante","synonyms":["CMTDI"]},"de":{"name":"Charcot-Marie-Tooth-Krankheit, dominant-intermediäre","synonyms":["DI-CMT"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante"},"it":{"name":"Malattia di Charcot-Marie-Tooth, forma dominante intermedia","synonyms":["DI-CMT"]},"nl":{"name":"Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth","synonyms":["DI-CMT"]},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómicadominante"},"pl":{"name":"Autosomalna dominująca pośrednia choroba Charcota, Mariego i Tootha","synonyms":["CMTDI"]},"cs":{"name":"Autozomálně dominantní středně závažná Charcotova-Marieova-Toothova nemoc","synonyms":["CMTDI","Autozomálně dominantní středně závažná Charcot-Marie-Toothova nemoc"]},"uk":{"name":"Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута","synonyms":["CMTDI"]},"zh":{"name":"常染色体显性遗传中间型腓骨肌萎缩症","synonyms":["CMTDI"]},"tr":{"name":"Otozomal dominant orta dereceli Charcot-Marie-Tooth hastalığı","synonyms":["CMTDI"]}},"xrefs":[{"source":"ICD-11","code":"8C20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"965200428"},{"source":"MONDO","code":"0019548","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680178","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12436","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":476123,"name":"Intermediate Charcot-Marie-Tooth disease","classifications":[156,181]}],"children":[{"orpha":100043,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type A","type":"Disease"},{"orpha":100044,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B","type":"Disease"},{"orpha":100045,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type C","type":"Disease"},{"orpha":100046,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D","type":"Disease"},{"orpha":93114,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type E","type":"Disease"},{"orpha":352670,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F","type":"Disease"},{"orpha":324585,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}