{"orpha":522554,"name":"Syndromic genetic ectopia lentis","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-522554/","orphanet_url":"https://www.orpha.net/en/disease/detail/522554","names":{"fr":{"name":"Ectopie du cristallin syndromique d'origine génétique"},"de":{"name":"Syndromale genetisch bedingte Ectopia lentis"},"es":{"name":"Ectopia lentis genética sindrómica"},"it":{"name":"Ectopia lentis genetica sindromica"},"nl":{"name":"Syndromale genetische ectopia lentis"},"pt":{"name":"Ectopia da lente genética sindromática"},"pl":{"name":"Zespół podwichnięcia soczewki uwarunkowany genetycznie"},"cs":{"name":"Syndromická genetická ektopie čočky"},"uk":{"name":"Синдром генетично обумовленої ектопії кришталика"},"zh":{"name":"综合征性遗传性晶状体异位"},"tr":{"name":"Sendromik genetik ektopia lentis"}},"xrefs":[{"source":"UMLS","code":"C5681416","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522552,"name":"Lens position anomaly of genetic origin","classifications":[156]}],"children":[{"orpha":1068,"name":"Aniridia-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":1259,"name":"Blepharoptosis-myopia-ectopia lentis syndrome","type":"Disease"},{"orpha":171844,"name":"Blindness-scoliosis-arachnodactyly syndrome","type":"Malformation syndrome"},{"orpha":833,"name":"Encephalopathy due to sulfite oxidase deficiency","type":"Disease"},{"orpha":2325,"name":"Epidermolysis bullosa simplex with anodontia/hypodontia","type":"Malformation syndrome"},{"orpha":412022,"name":"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome","type":"Malformation syndrome"},{"orpha":2092,"name":"Focal dermal hypoplasia","type":"Malformation syndrome"},{"orpha":2084,"name":"Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome","type":"Malformation syndrome"},{"orpha":394,"name":"Homocystinuria due to cystathionine beta-synthase deficiency","type":"Disease"},{"orpha":558,"name":"Marfan syndrome","type":"Disease"},{"orpha":560,"name":"Marshall syndrome","type":"Malformation syndrome"},{"orpha":2551,"name":"Microspherophakia-metaphyseal dysplasia syndrome","type":"Malformation syndrome"},{"orpha":3449,"name":"Weill-Marchesani syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}