{"orpha":718255,"name":"Y-linked non-syndromic genetic deafness","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Non-syndromic genetic DFNY","Y-linked isolated neurosensory deafness","Y-linked isolated neurosensory hearing loss","Y-linked isolated sensorineural deafness","Y-linked isolated sensorineural hearing loss","Y-linked non-syndromic genetic hearing loss","Y-linked non-syndromic neurosensory deafness","Y-linked non-syndromic neurosensory hearing loss","Y-linked non-syndromic sensorineural deafness","Y-linked non-syndromic sensorineural hearing loss"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-718255/","orphanet_url":"https://www.orpha.net/en/disease/detail/718255","names":{"fr":{"name":"Surdité génétique non syndromique liée au chromosome Y","synonyms":["Surdité de perception isolée liée au chromosome Y","Surdité de perception non syndromique liée au chromosome Y","Surdité neurosensorielle isolée liée au chromosome Y"]},"de":{"name":"Y-chromosomale nicht-syndromale genetische Schwerhörigkeit","synonyms":["Y-chromosomale isolierte neurosensorische Taubheit","Y-chromosomale isolierte sensorineurale Schwerhörigkeit","Y-chromosomaler isolierter neurosensorischer Hörverlust"]},"es":{"name":"Sordera genética no sindrómica ligada al cromosoma Y","synonyms":["Hipoacusia neurosensorial no sindrómica ligada al cromosoma Y","DFNY genética no sindrómica","Sordera neurosensorial aislada ligada al cromosoma Y","Hipoacusia neurosensorial aislada ligada al cromosoma Y","Hipoacusia genética no sindrómica ligada al cromosoma Y","Sordera neurosensorial no sindrómica ligada al cromosoma Y"]},"it":{"name":"Sordità genetica non sindromica legata all'Y","synonyms":["Sordità neurosensoriale non sindromica legata all'Y","Perdita dell'udito neurosensoriale non sindromica legata all'Y","DFNY genetica non sindromica","Sordità neurosensoriale isolata legata all'Y","Perdita dell'udito neurosensoriale isolata legata all'Y","Perdita dell'udito genetica non sindromica legata all'Y"]},"nl":{"name":"Y-gebonden niet-syndromale genetische doofheid","synonyms":["Y-gebonden niet-syndromaal neurosensorisch gehoorverlies","Y-gebonden niet-syndromaal sensorineuraal gehoorverlies","Y-gebonden geïsoleerd perceptief gehoorverlies","Y-gebonden niet-syndromaal perceptief gehoorverlies","Y-gebonden geïsoleerd neurosensorisch gehoorverlies","Y-gebonden niet-syndromaal genetisch gehoorverlies","Y-gebonden geïsoleerd sensorineuraal gehoorverlies","Y-gebonden niet-syndromale neurosensorische doofheid","Y-gebonden niet-syndromale sensorineurale doofheid","Niet-syndromale genetische DFNY","Y-gebonden geïsoleerde neurosensorische doofheid","Y-gebonden geïsoleerde sensorineurale doofheid"]},"pt":{"name":"Rare Y-linked non-syndromic sensorineural deafness type DFNY"},"pl":{"name":"Y-linked non-syndromic genetic deafness","synonyms":["Non-syndromic genetic DFNY","Y-linked isolated neurosensory deafness","Y-linked isolated neurosensory hearing loss","Y-linked isolated sensorineural deafness","Y-linked isolated sensorineural hearing loss","Y-linked non-syndromic genetic hearing loss","Y-linked non-syndromic neurosensory deafness","Y-linked non-syndromic neurosensory hearing loss","Y-linked non-syndromic sensorineural deafness","Y-linked non-syndromic sensorineural hearing loss"]},"cs":{"name":"Y-linked non-syndromic genetic deafness","synonyms":["Non-syndromic genetic DFNY","Y-linked isolated neurosensory deafness","Y-linked isolated neurosensory hearing loss","Y-linked isolated sensorineural deafness","Y-linked isolated sensorineural hearing loss","Y-linked non-syndromic genetic hearing loss","Y-linked non-syndromic neurosensory deafness","Y-linked non-syndromic neurosensory hearing loss","Y-linked non-syndromic sensorineural deafness","Y-linked non-syndromic sensorineural hearing loss"]}},"xrefs":[{"source":"OMIM","code":"400043","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"400047","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":87884,"name":"Rare non-syndromic genetic deafness","classifications":[156,200]}],"children":[],"genes":[{"symbol":"TBL1Y","name":"transducin beta like 1 Y-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30341416[PMID]","hgnc":"18502","ensembl":"ENSG00000092377","omim":"400033","loci":["Yp11.2"]}],"genes_via_subtypes":[],"inheritance":["Y-linked"],"onset":[],"prevalence":[],"phenotypes":null}