{"orpha":383,"name":"X-linked mixed deafness with perilymphatic gusher","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Conductive deafness with stapes fixation","Nance deafness","X-linked mixed conductive and neurosensory deafness","X-linked mixed conductive and neurosensory hearing loss","X-linked mixed conductive and sensorineural deafness","X-linked mixed conductive and sensorineural hearing loss","X-linked stapes gusher syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked non-syndromic genetic deafness","url":"https://raremap.alftech.space/d/ORPHA-383/","orphanet_url":"https://www.orpha.net/en/disease/detail/383","names":{"fr":{"name":"Surdité mixte liée à l'X avec geyser labyrinthique","synonyms":["Oreille geyser","Surdité mixte de transmission et de perception liée à l'X","Surdité mixte de transmission et neurosensorielle liée à l'X","Surdité mixte liée à l'X avec fistule périlymphatique","Surdité mixte liée à l'X avec geyser-labyrinthe","Surdité mixte liée à l'X avec gusher"]},"de":{"name":"X-chromosomale gemischte Schwerhörigkeit mit Perilymphfistel","synonyms":["Nance-Schwerhörigkeit","Schallleitungsschwerhörigkeit mit Stapes-Fixation","Stapes-Gusher-Syndrom, X-chromosomales"]},"es":{"name":"Sordera mixta ligada al cromosoma X con gusher perilinfático","synonyms":["Hipoacusia mixta neurosensorial y conductiva ligada al cromosoma X","Sordera conductiva con fijación del estribo","Sordera de Nance","Sordera mixta neurosensorial y conductiva ligada al cromosoma X","Síndrome de gusher estapedial ligado al cromosoma X"]},"it":{"name":"Sordità mista legata all'X con ingorgo perilinfatico","synonyms":["Perdita dell'udito mista neurosensoriale e di conduzione legata all'X","Sordità conduttiva e neurosensoriale mista legata all'X","Perdita dell'udito conduttiva e neurosensorale mista legata all'X","Sindrome con ingorgo delle staffe legata all'X","Sordità conduttiva con fissazione della staffa","Sordità di Nance","Sordità mista neurosensoriale e di conduzione legata all'X"]},"nl":{"name":"X-gebonden gemengde doofheid met perilymfatische fistel","synonyms":["Conductieve doofheid met stapesfixatie","Nance-doofheid","X-gebonden gemengd conductief en neurosensorisch gehoorverlies","X-gebonden gemengd conductief en sensorineuraal gehoorverlies","X-gebonden gemengde conductieve en neurosensorische doofheid","X-gebonden gemengde conductieve en sensorineurale doofheid","X-gebonden gemengde doofheid met perilymfatische gusher","X-gebonden stapes - gusher-syndroom"]},"pt":{"name":"Surdez mista ligada ao X com gusher perilinfático","synonyms":["Surdez ligada ao X tipo 2","Síndrome Gusher"]},"pl":{"name":"Niedosłuch mieszany sprzężony z chromosomem X z wytryskiem perilimfy","synonyms":["Sprzężony z chromosomem X zespół ufiksowanego strzemiączka","DFNX2","Niedosłuch mieszany przewodzeniowy i nerwowo-czuciowy sprzężony z chromosomem X","Niedosłuch mieszany przewodzeniowy i nerwowo-czuciowy sprzężony z chromosomem X","Niedosłuch Nence'a","Niedosłuch przewodzeniowy z unieruchomieniem strzemiączka","Niedosłuch sprzężony z chromosomem X typu 2","Utrata słuchu mieszana przewodzeniowa i nerwowo-czuciowa sprzężona z chromosomem X","Utrata słuchu mieszana przewodzeniowa i nerwowo-czuciowa sprzężona z chromosomem X"]},"cs":{"name":"X-vázaná smíšená převodní a senzorineurální hluchota","synonyms":["DFNX2","Nancova hluchota","X-vázaná hluchota, typ 2","X-vázaná nesyndromová ztráta sluchu","Převodní hluchota s fixací třmínku","X-vázaná smíšená převodní a neurosenzorická hluchota","X-vázaná smíšená převodní a neurosenzorická ztráta sluchu","X-vázaná smíšená převodní a senzorineurální ztráta sluchu"]},"uk":{"name":"Х-зчеплена змішана глухота з перилімфатичним шумом","synonyms":["Кондуктивна глухота з фіксацією стремінця","DFNX2","Глухота Нанса","Глухота, зчеплена з Х-хромосомою, тип 2","Х-зчеплена змішана кондуктивна та нейросенсорна глухота","Х-зчеплена змішана кондуктивна та нейросенсорна приглухуватість","Х-зчеплена змішана кондуктивна та сенсоневральна глухота","Х-зчеплена змішана кондуктивна та нейросенсорна приглухуватість","Х-зчеплений синдром гушеподібних стремінців"]},"zh":{"name":"X连锁混合性聋伴外淋巴镫井喷","synonyms":["X连锁传导性感音性混合型耳聋"]},"tr":{"name":"X'e bağlı perilenfatik sıvılı karma tip sağırlık","synonyms":["DFNX2","Nance sağırlık","X'e bağlı sağırlık tip 2","X'e bağlı stapes gusher sendromu","Stapes fiksasyonu ile seyreden iletken sağırlık","X'e bağlı karma iletken ve nörosensör sağırlık","X'e bağlı karma iletken ve sensörinöral sağırlık","X'e bağlı karma iletken ve nörosensör işitme kaybı","X'e bağlı karma iletken ve sensörinöral işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"304400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844678","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":90625,"name":"X-linked non-syndromic genetic deafness"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}