{"orpha":476116,"name":"Demyelinating hereditary motor and sensory neuropathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Demyelinating HMSN"],"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-476116/","orphanet_url":"https://www.orpha.net/en/disease/detail/476116","names":{"fr":{"name":"Neuropathie sensitivo-motrice héréditaire démyélinisante","synonyms":["HMSN démyélinisante","NSMH démyélinisante"]},"de":{"name":"Neuropathie, hereditäre motorisch-sensorische, demyelinisierende From","synonyms":["HMSN, demyelinisierende"]},"es":{"name":"Neuropatía desmielinizante sensitivo-motora hereditaria","synonyms":["HMSN desmielinizante"]},"it":{"name":"Malattia demielinizzante di Charcot-Marie-Tooth"},"nl":{"name":"Demyeliniserende erfelijke motorische en sensorische neuropathie","synonyms":["Demyeliniserende HMSN"]},"pt":{"name":"Neuropatia sensitiva e motora hereditária desmielinizante","synonyms":["Doença de Charcot-Marie-Tooth desmielinizante"]},"pl":{"name":"Demielinizująca dziedziczna neuropatia ruchowa i czuciowa","synonyms":["Demielinizująca HMSN"]},"cs":{"name":"Demyelinizační hereditární senzomotorická neuropatie","synonyms":["Demyelinating HMSN","Demyelinizační HMSN"]},"uk":{"name":"Демієлінізуюча спадкова моторна та сенсорна нейропатія","synonyms":["Демієлінізуючий HMSN"]},"zh":{"name":"遗传性运动和感觉神经脱髓鞘病","synonyms":["HMSN脱髓鞘"]},"tr":{"name":"Demiyelinizan kalıtsal motor ve duyusal nöropati","synonyms":["Demiyelinizan HMSN"]}},"xrefs":[{"source":"MONDO","code":"0018776","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18776","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680106","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":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","type":"Category"},{"orpha":140459,"name":"Autosomal recessive hereditary demyelinating motor and sensory neuropathy","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}