{"orpha":1381,"name":"OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Karandikar-Maria-Kamble syndrome"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","url":"https://raremap.alftech.space/d/ORPHA-1381/","orphanet_url":"https://www.orpha.net/en/disease/detail/1381","names":{"fr":{"name":"OBSOLETE : Syndrome de cataracte-déficience intellectuelle-atrésie anale-uropathie","synonyms":["OBSOLETE : Syndrome de Karandikar-Maria-Kamble"]},"de":{"name":"OBSOLET: Katarakt-Intelligenzminderung-Analatresie-Uropathie-Syndrom"},"es":{"name":"OBSOLETO: Síndrome de catarata-discapacidad intelectual-atresia anal-defectos urinarios","synonyms":["OBSOLETO: Síndrome de Karandikar-Maria-Kamble"]},"it":{"name":"OBSOLETO: Sindrome cataratta-disabilità intellettiva-atresia anale-disturbi urinari","synonyms":["OBSOLETO: Sindrome di Karandikar-Marie-Kamble"]},"nl":{"name":"OBSOLEET: Cataract - intellectuele achterstand - anusatresie - urinaire defecten-syndroom","synonyms":["NIET ZELDZAME ZIEKTE IN EUROPA: Syndroom van Karandikar-Maria-Kamble"]},"pt":{"name":"OBSOLETO: Síndrome de catarata-perturbação do desenvolvimento intelectual-atresia anal-anomalias urinárias","synonyms":["OBSOLETO: Síndrome Karandikar-Maria-Kamble"]},"pl":{"name":"NIEAKTUALNE: Zespół zaćmy, niepełnosprawności intelektualnej, zarośnięcia odbytu i wad układu moczowego","synonyms":["NIEAKTUALNE: Zespół Karandikara. Maria i Kamble"]},"cs":{"name":"NEAKTUÁLNÍ: Syndrom zahrnující kataraktu, mentální retardaci, atrézii anu a defekty močového ústrojí","synonyms":["NEAKTUÁLNÍ: Karandikarův-Mariaův-Kambleův syndrom","NEAKTUÁLNÍ: Karandikar-Maria-Kambleův syndrom"]},"uk":{"name":"Синдром катаракти-інтелектуальної недостатності-атрезії анального отвору-сечових вад","synonyms":["Синдром Карандикара-Марії-Камбла"],"definition":"Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies."},"zh":{"name":"白内障-智力障碍-肛门闭锁-泌尿系缺损综合征","synonyms":["Karandikar-Maria-Kamble综合征"]},"tr":{"name":"Katarakt-zihinsel yetersizlik-anal atrezi-üriner defekt sendromu","synonyms":["Karandikar-Maria-Kamble sendromu"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}