{"orpha":522564,"name":"Syndromic genetic keratoconus","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-522564/","orphanet_url":"https://www.orpha.net/en/disease/detail/522564","names":{"fr":{"name":"Syndromes génétiques comprenant un kératocône"},"de":{"name":"Syndromaler genetisch bedingter Keratokonus"},"es":{"name":"Queratocono genético sindrómico"},"it":{"name":"Cheratocono congenito sindromico"},"nl":{"name":"Syndromale genetische keratoconus"},"pt":{"name":"Queratoconus genético raro"},"pl":{"name":"Zespół stożka rogówki uwarunkowany genetycznie"},"cs":{"name":"Syndromický genetický keratokonus"},"uk":{"name":"Синдромний генетично обумовлений кератоконус"},"zh":{"name":"综合征性遗传性圆锥角膜"},"tr":{"name":"Sendromik genetik keratokonus"}},"xrefs":[{"source":"UMLS","code":"C5681411","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522558,"name":"Rare genetic disorder with corneal involvement as a major feature","classifications":[156]}],"children":[{"orpha":870,"name":"Down syndrome","type":"Malformation syndrome"},{"orpha":293936,"name":"EDICT syndrome","type":"Disease"},{"orpha":2067,"name":"GAPO syndrome","type":"Malformation syndrome"},{"orpha":558,"name":"Marfan syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}