{"orpha":171201,"name":"OBSOLETE: High isolated anorectal malformation","type":"Morphological anomaly","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Non-syndromic anorectal malformation","url":"https://raremap.alftech.space/d/ORPHA-171201/","orphanet_url":"https://www.orpha.net/en/disease/detail/171201","names":{"fr":{"name":"OBSOLETE : Malformation anorectale isolée haute"},"de":{"name":"OBSOLET: Anorektale Fehlbildung, hohe Form"},"es":{"name":"OBSOLETO: Malformación anorrectal alta aislada"},"it":{"name":"OBSOLETO: Malformazione anorettale alta isolata"},"nl":{"name":"OBSOLEET: Hoge geïsoleerde anorectale malformatie"},"pt":{"name":"OBSOLETO: Malformação anoretal superior isolada"},"pl":{"name":"NIEAKTUALNE: Wady odbytu i odbytnicy typu wysokiego"},"cs":{"name":"NEAKTUÁLNÍ: Vysoká anorektální malformace"},"uk":{"name":"ЗАСТАРІЛО: Висока ізольована аноректальна вада розвитку"},"zh":{"name":"孤立性高位肛门直肠畸形","definition":"孤立性高位直肠肛门畸形是一种罕见的遗传性非综合征型直肠肛门畸形，由于胚胎发育障碍所致，其主要临床表现为耻骨线上的肛门直肠畸形，伴有或不伴直肠尿道瘘（i.e.肛门直肠发育不全，直肠发育不全、闭锁或狭窄），可能出现胎粪、脓尿、痛性尿淋漓和大小便失禁。"},"tr":{"name":"Yüksek izole anorektal malformasyon"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":557,"name":"Non-syndromic anorectal malformation"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}