{"orpha":98975,"name":"Congenital hereditary endothelial dystrophy type I","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Autosomal dominant CHED","Autosomal dominant congenital hereditary endothelial dystrophy","CHED1","CHEDI","Congenital hereditary endothelial dystrophy type 1"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Posterior polymorphous corneal dystrophy","url":"https://raremap.alftech.space/d/ORPHA-98975/","orphanet_url":"https://www.orpha.net/en/disease/detail/98975","names":{"fr":{"name":"Dystrophie endothéliale congénitale héréditaire type I","synonyms":["CHED autosomique dominante","CHED1","CHEDI","Dystrophie endothéliale congénitale héréditaire autosomique dominante","Dystrophie endothéliale congénitale héréditaire type 1"]},"de":{"name":"Endotheldystrophie, hereditäre kongenitale 1","synonyms":["CHED1","CHEDI","Endotheldystrophie, hereditäre kongenitale I"]},"es":{"name":"Distrofia endotelial hereditaria congénita I","synonyms":["CHED autosómica dominante","CHED1","CHEDI","Distrofia endotelial hereditaria congénita 1","Distrofia endotelial hereditaria congénita autosómica dominante"]},"it":{"name":"Distrofia endoteliale ereditaria congenita I","synonyms":["CHED autosomica dominante","CHED1","CHEDI","Distrofia endoteliale ereditaria congenita 1","Distrofia endoteliale ereditaria congenita autosomica dominante"]},"nl":{"name":"Congenitale hereditaire endotheliale dystrofie I","synonyms":["Autosomaal dominante CHED","Autosomaal dominante congenitale erfelijke endotheliale dystrofie","CHED1","CHEDI","Congenitale erfelijke endotheliale dystrofie 1"]},"pt":{"name":"Distrofia endotelial congénita, hereditária"},"pl":{"name":"Wrodzona dziedziczna dystrofia śródbłonka typu I","synonyms":["Autosomalna dominująca CHED","Autosomalna dominująca wrodzona dziedziczna dystrofia śródbłonka typu I","CHED1","CHEDI","Wrodzona dziedziczna dystrofia śródbłonka typu I 1"]},"cs":{"name":"Vrozená hereditární endotelová dystrofie rohovky, typ I","synonyms":["CHED1","CHEDI","Vrozená hereditární endotelová dystrofie, typ 1","Autozomálně dominantní CHED","Vrozená hereditární endotelová dystrofie s autozomálně dominantní dědičností"]},"uk":{"name":"Вроджена спадкова ендотеліальна дистрофія, тип I","synonyms":["Аутосомно-домінантна CHED","Аутосомно-домінантна вроджена спадкова ендотеліальна дистрофія","CHED1","CHEDІ","Вроджена спадкова ендотеліальна дистрофія типу 1"]},"zh":{"name":"先天性遗传性内皮细胞营养不良I型","synonyms":["常染色体显性遗传性先天性内皮细胞营养不良"],"definition":"该病是一种罕见的后部角膜营养不良亚型，特征是角膜呈弥漫的磨玻璃样外观，角膜从出生或婴儿开始就明显增厚，伴随视力模糊，没有眼球震颤。"},"tr":{"name":"Doğumsal kalıtsal endotelyal distrofi tip I","synonyms":["CHED1","CHEDI","Otozomal dominant CHED","Doğumsal kalıtsal endotelyal distrofi tip 1","Otozomal dominant Doğumsal herediter endotelyal distrofi"]}},"xrefs":[{"source":"OMIM","code":"122000","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0020365","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1562945","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":98973,"name":"Posterior polymorphous corneal dystrophy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}