{"orpha":1135,"name":"Arrhinia-choanal atresia-microphthalmia syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome","url":"https://raremap.alftech.space/d/ORPHA-1135/","orphanet_url":"https://www.orpha.net/en/disease/detail/1135","names":{"fr":{"name":"Syndrome d'arhinie-atrésie des choanes-microphtalmie"},"de":{"name":"Arrhinie-Choanalatresie-Mikrophthalmie-Syndrom"},"es":{"name":"Síndrome de arrinia-atresia de coanas-microftalmia"},"it":{"name":"Arinia - atresia delle coane - microftalmia"},"nl":{"name":"Arrhinie - choane atresie - microftalmie-syndroom"},"pt":{"name":"Síndrome de arrinia-atresia das coanas-microftalmia"},"pl":{"name":"Brak nosa - atrezja nozdrzy tylnych - mikroftalmia"},"cs":{"name":"Syndrom zahrnující arhinii, atrézii choan a mikroftalmii"},"uk":{"name":"Синдром аррінії-хоанальної атрезії-мікрофтальмії","definition":"A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate."},"zh":{"name":"无鼻畸形-鼻后孔闭锁-小眼畸形综合征"},"tr":{"name":"Arini-koanal atrezi-mikroftalmi sendromu"}},"xrefs":[{"source":"MONDO","code":"0015238","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863878","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8755","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":2250,"name":"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}