{"orpha":476123,"name":"Intermediate Charcot-Marie-Tooth disease","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Intermediate CMT","Intermediate hereditary motor and sensory neuropathy"],"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-476123/","orphanet_url":"https://www.orpha.net/en/disease/detail/476123","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiare","synonyms":["Neuropathie sensitivo-motrice héréditaire intermédiare"]},"de":{"name":"Charcot-Marie-Tooth-Krankheit, intermediäre","synonyms":["Neuropathie, hereditäre motorisch-sensorische, intermediäre Form"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia","synonyms":["Neuropatía hereditaria sensitivo-motora intermedia"]},"it":{"name":"Malattia intermedia di Charcot-Marie-Tooth"},"nl":{"name":"Intermediaire ziekte van Charcot-Marie-Tooth","synonyms":["Intermediaire erfelijke motorische en sensorische neuropathie"]},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia"},"pl":{"name":"Pośrednia choroba Charcota, Mariego i Tootha","synonyms":["Pośrednia dziedziczna neuropatia ruchowa i czuciowa"]},"cs":{"name":"Středně pokročilá Charcot-Marie-Toothova nemoc","synonyms":["Intermediate hereditary motor and sensory neuropathy","Středně těžká dědičná motorická a senzorická neuropatie"]},"uk":{"name":"Помірно виражена хвороба Шарко-Марі-Тута","synonyms":["Проміжний CMT","Проміжна спадкова моторна та сенсорна нейропатія"]},"zh":{"name":"中间亚型夏洛克-玛丽齿病","synonyms":["中间亚型遗传性运动和感觉神经病"]},"tr":{"name":"Orta dereceli Charcot-Marie-Tooth hastalığı","synonyms":["Orta düzey kalıtsal motor ve duyusal nöropati"]}},"xrefs":[{"source":"ICD-11","code":"8C20.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1389094589"},{"source":"MONDO","code":"0018778","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18778","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680108","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166,"name":"Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[{"orpha":90114,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","type":"Clinical group"},{"orpha":268337,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}