{"orpha":686556,"name":"Isolated congenital cholesteatoma of the middle ear","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CCME","CMEC","Congenital middle ear cholesteatoma"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-686556/","orphanet_url":"https://www.orpha.net/en/disease/detail/686556","names":{"fr":{"name":"Cholestéatome congénital isolé de l'oreille moyenne"},"de":{"name":"Isoliertes kongenitales Cholesteatom des Mittelohrs","synonyms":["Kongenitales Cholesteatom des Mittelohrs","CCME","CMEC"]},"es":{"name":"Colesteatoma congénito aislado del oído medio"},"it":{"name":"Colesteatoma isolato congenito dell’orecchio medio","synonyms":["CCME","CMEC","Colesteatoma congenito dell’orecchio medio"]},"nl":{"name":"Geïsoleerd congenitaal cholesteatoom van middenoor","synonyms":["CCME","CMEC","Congenitaal cholesteatoom van middenoor"]},"pt":{"name":"Colesteatoma congénito isolado do ouvido médio","synonyms":["CCME","CMEC","Colesteatoma congénito do ouvido médio"]},"pl":{"name":"Isolated congenital cholesteatoma of the middle ear","synonyms":["CCME","CMEC","Congenital middle ear cholesteatoma"]},"cs":{"name":"Izolovaný vrozený cholesteatom středního ucha","synonyms":["CCME","CMEC","Congenital middle ear cholesteatoma"]}},"xrefs":[{"source":"ICD-10","code":"H71","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"AB12","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1419592677"},{"source":"MONDO","code":"975902","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":164004,"name":"Middle and/or inner ear anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}