{"orpha":2808,"name":"Laryngeal abductor paralysis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Familial vocal cord dysfunction","Gerhardt syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-2808/","orphanet_url":"https://www.orpha.net/en/disease/detail/2808","names":{"fr":{"name":"Paralysie des muscles du larynx","synonyms":["Dysjonction familiale des cordes vocales","Syndrome de Gerhardt"]},"de":{"name":"Kehlkopfmuskulatur, Lähmung der","synonyms":["Abduktorenlähmung, laryngeale","Gerhardt-Syndrom","Stimmbanddysfunktion, familiäre"]},"es":{"name":"Parálisis de músculos de laringe","synonyms":["Disfunción familiar de las cuerdas vocales","Síndrome de Gerhardt"]},"it":{"name":"Paralisi dei muscoli della laringe","synonyms":["Disgiunzione familiare delle corde vocali","Sindrome di Gerhardt"]},"nl":{"name":"Paralyse van abductor van larynx","synonyms":["Familiale disfunctie van stemband","Syndroom van Gerhardt","Verlamming van abductor van strottenhoofd"]},"pt":{"name":"Parésia do abdutor laríngeo","synonyms":["Disfunção das cordas vocais tipo familiar","Síndrome Gerhardt"]},"pl":{"name":"Paraliż mięśnia odwodziciela krtani","synonyms":["Rodzinna dysfunkcja fałdu głosowego","Zespół Gerhardta"]},"cs":{"name":"Paralýza laryngeálního abduktoru","synonyms":["Familiární dysfunkce hlasivek","Gerhardtův syndrom"]},"uk":{"name":"Параліч абдукторів гортані","synonyms":["Сімейна дисфункція голосових звязок","Синдром Герхардта"]},"zh":{"name":"喉外展肌麻痹","synonyms":["家族性声带功能障碍"]},"tr":{"name":"Laringeal abdüktör paralizi","synonyms":["Gerhardt sendromu","Ailesel ses teli disfonksiyonu"]}},"xrefs":[{"source":"OMIM","code":"150260","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J38.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA71.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"965049946"},{"source":"MONDO","code":"0007876","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0396059","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5509","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":435609,"name":"Genetic larynx anomaly","classifications":[156]},{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"2277390[PMID]_7149532[PMID]_4058983[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2277390[PMID]_7149532[PMID]_4058983[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null}]}}