{"orpha":522568,"name":"Rare genetic disorder of the pupil","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-522568/","orphanet_url":"https://www.orpha.net/en/disease/detail/522568","names":{"fr":{"name":"Maladie génétique rare de la pupille"},"de":{"name":"Seltene genetische Krankheit der Pupille"},"es":{"name":"Trastorno genético raro de la pupila"},"it":{"name":"Malattia genetica rara della pupilla"},"nl":{"name":"Zeldzame genetische aandoening van pupil"},"pt":{"name":"Doença genética rara da pupila"},"pl":{"name":"Rzadka choroba źrenicy uwarunkowna genetycznie"},"cs":{"name":"Vzácná genetická porucha zornice"},"uk":{"name":"Рідкісне генетично обумовлене захворювання зіниці"},"zh":{"name":"罕见瞳孔遗传性疾病"},"tr":{"name":"Göz bebeğinde görülen nadir genetik bozukluğu"}},"xrefs":[{"source":"UMLS","code":"C5681405","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522538,"name":"Rare genetic disorder of the anterior segment of the eye","classifications":[156]}],"children":[{"orpha":773,"name":"Adult Refsum disease","type":"Disease"},{"orpha":1067,"name":"Aniridia-ptosis-intellectual disability-familial obesity syndrome","type":"Malformation syndrome"},{"orpha":1422,"name":"Chondrodysplasia-difference of sex development syndrome","type":"Malformation syndrome"},{"orpha":91413,"name":"Congenital Horner syndrome","type":"Disease"},{"orpha":1884,"name":"Ectopia lentis-chorioretinal dystrophy-myopia syndrome","type":"Disease"},{"orpha":1764,"name":"Familial dysautonomia","type":"Disease"},{"orpha":2151,"name":"Hirschsprung disease-ganglioneuroblastoma syndrome","type":"Malformation syndrome"},{"orpha":404463,"name":"Multisystemic smooth muscle dysfunction syndrome","type":"Disease"},{"orpha":534,"name":"Oculocerebrorenal syndrome of Lowe","type":"Malformation syndrome"},{"orpha":2788,"name":"Osteoporosis-pseudoglioma syndrome","type":"Disease"},{"orpha":2969,"name":"Proteus-like syndrome","type":"Clinical subtype"},{"orpha":2999,"name":"Ptosis-strabismus-ectopic pupils syndrome","type":"Malformation syndrome"},{"orpha":3163,"name":"SHORT syndrome","type":"Malformation syndrome"},{"orpha":1182,"name":"Spastic ataxia with congenital miosis","type":"Disease"},{"orpha":3204,"name":"Stormorken-Sjaastad-Langslet syndrome","type":"Disease"},{"orpha":236,"name":"Trisomy 9p syndrome","type":"Malformation syndrome"},{"orpha":3374,"name":"Unilateral ocular duplication","type":"Morphological anomaly"},{"orpha":1661,"name":"X-linked corneal dermoid","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}