{"orpha":519288,"name":"Rare 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-519288/","orphanet_url":"https://www.orpha.net/en/disease/detail/519288","names":{"fr":{"name":"Maladie rare avec atteinte cornéenne comme manifestation majeure"},"de":{"name":"Seltene Krankheit mit Korneabeteiligung als Hauptmerkmal"},"es":{"name":"Trastorno raro con afectación corneal como característica principal"},"it":{"name":"Patologia rara con coinvolgimento corneale quale segno maggiore"},"nl":{"name":"Zeldzame aandoening met betrokkenheid van cornea als hoofdkenmerk"},"pt":{"name":"Doença rara com envolvimento da córnea como característica principal"},"pl":{"name":"Rzadka choroba, której objawy obejmują głównie rogówkę"},"cs":{"name":"Vzácná porucha s postižením rohovky jako hlavním příznakem"},"uk":{"name":"Рідкісний розлад із залученням рогівки як основної ознаки"},"zh":{"name":"以角膜受累为主要特征的罕见疾病"},"tr":{"name":"Esas klinik özelliği kornea tutulumu olan nadir bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681388","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519282,"name":"Rare corneal disorder","classifications":[189]}],"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":34533,"name":"Corneal dystrophy","type":"Category"},{"orpha":1896,"name":"EEC syndrome","type":"Malformation syndrome"},{"orpha":257,"name":"Epidermolysis bullosa simplex with muscular dystrophy","type":"Disease"},{"orpha":2479,"name":"Megalocornea-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":519408,"name":"Mooren ulcer","type":"Disease"},{"orpha":684305,"name":"Neurooculocardiogenitourinary syndrome","type":"Disease"},{"orpha":137672,"name":"Pellucid marginal degeneration","type":"Disease"},{"orpha":519290,"name":"Rare inflammatory/autoimmune corneal disorder","type":"Category"},{"orpha":79404,"name":"Severe generalized junctional epidermolysis bullosa","type":"Disease"},{"orpha":95455,"name":"Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum","type":"Disease"},{"orpha":98623,"name":"Syndromic keratoconus","type":"Category"},{"orpha":519410,"name":"Terrien marginal degeneration","type":"Disease"},{"orpha":28378,"name":"Tyrosinemia type 2","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}