{"orpha":217315,"name":"Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome","Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome","Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary non-essential cutis verticis gyrata","url":"https://raremap.alftech.space/d/ORPHA-217315/","orphanet_url":"https://www.orpha.net/en/disease/detail/217315","names":{"fr":{"name":"Syndrome de pachydermie plicaturée du cuir chevelu-rétinite pigmentaire-surdité neurosensorielle","synonyms":["Syndrome de pachydermie plicaturée du cuir chevelu-rétinite pigmentaire-surdité de perception","Syndrome de pachydermie vorticellée du cuir chevelu-rétinite pigmentaire-surdité de perception","Syndrome de pachydermie vorticellée du cuir chevelu-rétinite pigmentaire-surdité neurosensorielle"]},"de":{"name":"Cutis verticis gyrata-Retinitis pigmentosa-sensorineurale Schwerhörigkeit-Syndrom","synonyms":["Cutis verticis gyrata - Retinitis pigmentosa - sensorineuraler Hörverlust","Cutis verticis gyrata mit Retinitis pigmentosa und neurosensorischen Hörverlust","Cutis verticis gyrata-Retinitis pigmentosa-Schallempfindungsschwerhörigkeit-Syndrom"]},"es":{"name":"Síndrome de cutis verticis gyrata-retinosis pigmentaria-sordera neurosensorial","synonyms":["Síndrome de cutis verticis gyrata-retinosis pigmentaria-hipoacusia neurosensorial"]},"it":{"name":"Cutis verticis gyrata - retinite pigmentosa - sordità neurosensoriale","synonyms":["Cutis verticis gyrata - retinite pigmentosa - perdita dell'udito neurosensoriale"]},"nl":{"name":"Cutis verticis gyrata - retinitis pigmentosa - sensorineurale doofheid","synonyms":["Cutis verticis gyrata - retinitis pigmentosa - neurosensorisch gehoorverlies","Cutis verticis gyrata - retinitis pigmentosa - neurosensorische doofheid","Cutis verticis gyrata - retinitis pigmentosa - sensorineuraal gehoorverlies"]},"pt":{"name":"Síndrome de cutis verticis gyrata-retinite pigmentosa-surdez neurossensorial"},"pl":{"name":"Skóra kręta ciemienia - zwyrodnienie barwnikowe siatkówki - głuchota zmysłowo-nerwowa","synonyms":["Skóra kręta ciemienia - zwyrodnienie barwnikowe siatkówki - głuchota nerwowo-zmysłowa","Skóra kręta ciemienia - zwyrodnienie barwnikowe siatkówki - nerwowo-zmysłowa utrata słuchu","Skóra kręta ciemienia - zwyrodnienie barwnikowe siatkówki - zmysłowo-nerwowa utrata słuchu"]},"cs":{"name":"Syndrom zahrnující cutis verticis gyrata, retinitis pigmentosa a sensorineurální hluchotu","synonyms":["Syndrom zahrnující cutis verticis gyrata, retinitis pigmentosa a neurosenzorickou hluchotu","Syndrom zahrnující cutis verticis gyrata, retinitis pigmentosa a neurosenzorickou ztrátu sluchu","Syndrom zahrnující cutis verticis gyrata, retinitis pigmentosa a sensorineurální ztrátu sluchu"]},"uk":{"name":"Синдром сutis verticis gyrata-пігментного ретиніту-сенсоневральної глухоти","synonyms":["Синдром сutis verticis gyrata - пігментного ретиніту - нейросенсорної глухоти","Cutis verticis gyrata - пігментний ретиніт - нейросенсорна приглухуватість","Cutis verticis gyrata - пігментний ретиніт-сенсоневральна приглухуватість"]},"zh":{"name":"回状颅皮-视网膜色素变性-感音神经性耳聋综合征","synonyms":["回状颅皮-视网膜色素变性-感音神经性耳聋综合征"]},"tr":{"name":"Cutis verticis gyrata-retinitis pigmentosa-sensorinöral sağırlık sendromu","synonyms":["Cutis verticis gyrata-retinitis pigmentosa-nörosensöri sağırlık sendromu","Cutis verticis gyrata-retinitis pigmentosa-nörosensori işitme kaybı sendromu","Cutis verticis gyrata-retinitis pigmentosa-sensorinöral işitme kaybı sendromu"]}},"xrefs":[{"source":"UMLS","code":"C1854061","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":357225,"name":"Primary non-essential cutis verticis gyrata"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}