{"orpha":1267,"name":"Botulism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1267/","orphanet_url":"https://www.orpha.net/en/disease/detail/1267","names":{"fr":{"name":"Botulisme","definition":"Le botulisme est une maladie rare acquise de la jonction neuromusculaire, caractérisée par une paralysie flasque descendante, due à la neurotoxine botulique (BoNT), et comportant quatre formes cliniques avec des modes d'intoxication différents."},"de":{"name":"Botulismus","definition":"Der Botulismus ist eine seltene erworbene Krankheit der Muskelendplatte und gekennzeichnet durch absteigende schlaffe Parese, verursacht durch Botulinus-Neurotoxine (BoNTs). Vier klinische Formen mit unterschiedlichen Entstehungswegen werden unterschieden."},"es":{"name":"Botulismo","definition":"El botulismo es una enfermedad rara adquirida de la unión neuromuscular, caracterizada por una parálisis flácida descendente causada por la neurotoxina botulínica (BoNT), que incluye cuatro formas clínicas con diferentes modos de adquisición."},"it":{"name":"Botulismo"},"nl":{"name":"Botulisme","definition":"Botulisme is een zeldzame, verworven aandoening van de neuromusculaire overgang, gekarakteriseerd door dalende slappe paralyse veroorzaakt door botuline-neurotoxines (BoNT's), en omvat vier klinische vormen die op verschillende manieren verworven worden."},"pt":{"name":"Botulismo","definition":"O Botulismo é uma doença rara da junção neuromuscular, adquirida, caracterizada por paralisia flácida descendente causada por neurotoxinas botulínicas (BoNTs), inclui quatro formas com diferentes modos de aquisição."},"pl":{"name":"Botulizm"},"cs":{"name":"Botulismus","synonyms":["Otrava botulotoxinem"]},"uk":{"name":"Ботулізм","definition":"Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition."},"zh":{"name":"肉毒梭菌毒素中毒"},"tr":{"name":"Botulizm"}},"xrefs":[{"source":"ICD-10","code":"A05.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"1A11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"78422942"},{"source":"MONDO","code":"0005498","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001906","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0006057","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10006041","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":98494,"name":"Acquired neuromuscular junction disease","classifications":[181]},{"orpha":163582,"name":"Rare bacterial infectious disease","classifications":[203]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[{"orpha":228371,"name":"Foodborne botulism","type":"Clinical subtype"},{"orpha":254509,"name":"Iatrogenic botulism","type":"Clinical subtype"},{"orpha":254504,"name":"Inhalational botulism","type":"Clinical subtype"},{"orpha":230800,"name":"Toxin-mediated infectious botulism","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.022,"area":"Europe","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.255,"area":"France","status":"Validated","source":"OTHERitut de Veille Sanitaire 2016[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"United States","status":"Validated","source":"Center for Diseases Control and Prevention 2006[OTHER]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.026,"area":"Austria","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Belgium","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.028,"area":"Bulgaria","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Croatia","status":"Validated","source":"European Centre for Disease prevention and Control 2013-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Czech Republic","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.024,"area":"Denmark","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"Finland","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Germany","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.052,"area":"Hungary","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"Ireland","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.052,"area":"Italy","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.086,"area":"Lithuania","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.002,"area":"Netherlands","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.038,"area":"Poland","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Portugal","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.104,"area":"Romania","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Slovenia","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.004,"area":"Spain","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Sweden","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"United Kingdom","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.098,"area":"Norway","status":"Validated","source":"European Centre for Disease prevention and Control 2011-2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006597","label":"Diaphragmatic paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010547","label":"Muscle flaccidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011499","label":"Mydriasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009113","label":"Diaphragmatic weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null}]}}