{"orpha":34533,"name":"Corneal dystrophy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A heterogeneous group of bilateral, genetically determined, non-inflammatory eye diseases that are usually restricted to the cornea. The designation is imprecise but remains in use because of its clinical value.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34533/","orphanet_url":"https://www.orpha.net/en/disease/detail/34533","names":{"fr":{"name":"Dystrophie cornéenne","definition":"Le terme de dystrophie cornéenne englobe un groupe hétérogène de maladies génétiques bilatérales non-inflammatoires qui sont en général limitées à la cornée. L'appellation est imprécise mais reste utilisée du fait de sa valeur clinique."},"de":{"name":"Hornhautdystrophie","definition":"Als Hornhautdystrophie wird eine heterogene Gruppe beidseitiger, genetisch determinierter, nicht-entzündlicher Erkrankungen bezeichnet, die in der Regel auf die Hornhaut beschränkt bleiben. Die Bezeichnung ist ungenau, bleibt aber wegen ihres klinischen Wertes in Gebrauch."},"es":{"name":"Distrofia corneal","definition":"El término distrofia corneal engloba un grupo heterogéneo de enfermedades no inflamatorias bilaterales genéticamente determinadas, que están generalmente limitadas a la córnea. La designación es imprecisa pero se mantiene por su valor clínico."},"it":{"name":"Distrofia corneale","definition":"Per distrofia corneale si intende un gruppo eterogeneo di malattie non infiammatorie, bilaterali e geneticamente determinate, che di solito colpiscono solo la cornea. Questa definizione è imprecisa, ma continua ad essere utilizzata per il suo valore clinico."},"nl":{"name":"Corneadystrofie","synonyms":["Hoornvliesdystrofie"],"definition":"De term corneadystrofie omvat een heterogene groep bilaterale genetisch bepaalde niet-inflammatoire cornea-aandoeningen die meestal beperkt blijven tot de cornea. De benaming is vaag maar blijft in gebruik vanwege zijn klinische waarde."},"pt":{"name":"Distrofia da córnea"},"pl":{"name":"Dystrofia rogówki"},"cs":{"name":"Dystrofie rohovky"},"uk":{"name":"Дистрофія рогівки","definition":"A heterogeneous group of bilateral, genetically determined, non-inflammatory eye diseases that are usually restricted to the cornea. The designation is imprecise but remains in use because of its clinical value."},"zh":{"name":"角膜营养不良"},"tr":{"name":"Korneal distrofi"}},"xrefs":[{"source":"ICD-10","code":"H18.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"9A70","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1291475891"},{"source":"MONDO","code":"0018102","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18102","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010036","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011005","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519288,"name":"Rare disorder with corneal involvement as a major feature","classifications":[189]}],"children":[{"orpha":98627,"name":"Posterior corneal dystrophy","type":"Category"},{"orpha":98626,"name":"Stromal corneal dystrophy","type":"Category"},{"orpha":98625,"name":"Superficial corneal dystrophy","type":"Category"},{"orpha":98628,"name":"Syndromic corneal dystrophy","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance","Not applicable","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":110.0,"area":"United States","status":"Not yet validated","source":"21791583[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}