{"orpha":522558,"name":"Rare genetic disorder with corneal involvement as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-522558/","orphanet_url":"https://www.orpha.net/en/disease/detail/522558","names":{"fr":{"name":"Maladie génétique rare avec atteinte cornéenne comme manifestation majeure"},"de":{"name":"Seltene genetische Krankheit mit Beteiligung der Kornea als Hauptmerkmal"},"es":{"name":"Trastorno genético raro con afectación corneal como característica principal"},"it":{"name":"Malattia genetica rara con coinvolgimento corneale quale segno maggiore"},"nl":{"name":"Zeldzame genetische aandoening met betrokkenheid van cornea als hoofdkenmerk"},"pt":{"name":"Doença genética rara com envolvimento da córnea como característica principal"},"pl":{"name":"Rzadka choroba uwarunkowana genetycznie, w której obrazie dominują objawy ze strony rogówki"},"cs":{"name":"Vzácná genetická porucha s postižením rohovky jako hlavním příznakem"},"uk":{"name":"Рідкісне генетично обумовлене захворювання, основною ознакою якого є ураження рогівки"},"zh":{"name":"以角膜受累为主要特征的罕见遗传性疾病"},"tr":{"name":"Esas klinik özelliği kornea tutulumu olan nadir genetik bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681410","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522556,"name":"Rare genetic corneal disorder","classifications":[156]}],"children":[{"orpha":89842,"name":"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","type":"Disease"},{"orpha":79408,"name":"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","type":"Disease"},{"orpha":1896,"name":"EEC syndrome","type":"Malformation syndrome"},{"orpha":257,"name":"Epidermolysis bullosa simplex with muscular dystrophy","type":"Disease"},{"orpha":522560,"name":"Genetic corneal dystrophy","type":"Category"},{"orpha":2479,"name":"Megalocornea-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":522566,"name":"Rare genetic inflammatory/autoimmune corneal disorder","type":"Category"},{"orpha":79404,"name":"Severe generalized junctional epidermolysis bullosa","type":"Disease"},{"orpha":522564,"name":"Syndromic genetic keratoconus","type":"Category"},{"orpha":28378,"name":"Tyrosinemia type 2","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}