{"orpha":519294,"name":"Syndromic microspherophakia","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-519294/","orphanet_url":"https://www.orpha.net/en/disease/detail/519294","names":{"fr":{"name":"Microsphérophakie syndromique"},"de":{"name":"Syndromale Mikrosphärophakie"},"es":{"name":"Microesferofaquia sindrómica"},"it":{"name":"Microsferofachia sindromica"},"nl":{"name":"Syndromale microsferofakie"},"pt":{"name":"Microesferofaquia sindromática"},"pl":{"name":"Zespół soczewki małej i kulistej"},"cs":{"name":"Syndromová mikrosférofakie"},"uk":{"name":"Синдромна мікросферофакія"},"zh":{"name":"综合征性小球形晶状体"},"tr":{"name":"Sendromik mikrosferofaki"}},"xrefs":[{"source":"MONDO","code":"0850009","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681371","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98652,"name":"Lens size anomaly","classifications":[147,189]},{"orpha":522550,"name":"Lens size anomaly of genetic origin","classifications":[156]}],"children":[{"orpha":3086,"name":"Autosomal dominant vitreoretinochoroidopathy","type":"Disease"},{"orpha":2084,"name":"Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome","type":"Malformation syndrome"},{"orpha":363992,"name":"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome","type":"Disease"},{"orpha":2551,"name":"Microspherophakia-metaphyseal dysplasia syndrome","type":"Malformation syndrome"},{"orpha":85194,"name":"Spondylo-ocular syndrome","type":"Malformation syndrome"},{"orpha":3449,"name":"Weill-Marchesani syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}