{"orpha":519292,"name":"Syndromic 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-519292/","orphanet_url":"https://www.orpha.net/en/disease/detail/519292","names":{"fr":{"name":"Ectopie du cristallin syndromique"},"de":{"name":"Syndromale Ectopia lentis"},"es":{"name":"Ectopia lentis sindrómica"},"it":{"name":"Ectopia lentis sindromica"},"nl":{"name":"Syndromale ectopia lentis"},"pt":{"name":"Ectopia da lente sindromática"},"pl":{"name":"Zespół podwichnięcia soczewki"},"cs":{"name":"Syndromová ektopie čočky"},"uk":{"name":"Синдромальна ектопія кришталика"},"zh":{"name":"综合征性晶体异位"},"tr":{"name":"Sendromik ektopia lentis"}},"xrefs":[{"source":"UMLS","code":"C5681372","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98653,"name":"Lens position anomaly","classifications":[147,189]}],"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":231736,"name":"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma 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}