{"orpha":653728,"name":"Congenital insensitivity to pain syndrome, Marsili type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Marsili syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-653728/","orphanet_url":"https://www.orpha.net/en/disease/detail/653728","names":{"fr":{"name":"Syndrome congénital d'insensibilité à la douleur type Marsili","synonyms":["Syndrome de Marsili"]},"de":{"name":"Kongenitale Schmerzunempfindlichkeit Typ Marsili","synonyms":["Marsili-Syndrom"]},"es":{"name":"Síndrome de insensibilidad congénita al dolor, tipo Marsili","synonyms":["Síndrome de Marsili"]},"it":{"name":"Sindrome da insensibilità congenita al dolore, tipo Marsili","synonyms":["Sindrome di Marsili"]},"nl":{"name":"Congenitale ongevoeligheid voor pijn-syndroom, Marsili-type","synonyms":["Marsili-syndroom"]},"pt":{"name":"Síndrome de insensibilidade congénita à dor, tipo Marsili","synonyms":["Síndrome Marsili"]},"pl":{"name":"Zespół wrodzonej niewrażliwości na ból typu Marsiliego","synonyms":["Marsili syndrome"]},"cs":{"name":"Vrozená necitlivost na bolest, Marsiliho typ","synonyms":["Marsili syndrome"]},"uk":{"name":"Вроджена нечутливість до больового синдрому, тип Марсілі","synonyms":["Синдром Марсілі"]}},"xrefs":[{"source":"OMIM","code":"147430","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958106","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958106","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4538468","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140474,"name":"Autosomal dominant hereditary sensory and autonomic neuropathy","classifications":[156,181]},{"orpha":140477,"name":"Autosomal recessive hereditary sensory and autonomic neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ZFHX2","name":"zinc finger homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29253101[PMID]","hgnc":"20152","ensembl":"ENSG00000136367","omim":"617828","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"29419974[PMID]_29253101[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29419974[PMID]_29253101[PMID]_ORPHANET"}],"phenotypes":null}