{"orpha":261600,"name":"Alagille syndrome due to 20p12 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Alagille syndrome due to del(20)(p12)","Alagille syndrome due to monosomy 20p12","Alagille-Watson syndrome due to monosomy 20p12","Arteriohepatic dysplasia due to monosomy 20p12","Syndromic bile duct paucity due to monosomy 20p12"],"definition":null,"note":"This disease is described under Alagille syndrome","url":"https://raremap.alftech.space/d/ORPHA-261600/","orphanet_url":"https://www.orpha.net/en/disease/detail/261600","names":{"fr":{"name":"Syndrome d'Alagille dû à une microdélétion 20p12","synonyms":["Dysplasie artério-hépatique due à une monosomie 20p12","Paucité des voies biliaires syndromique due à une monosomie 20p12","Syndrome d'Alagille dû à une monosomie 20p12","Syndrome d'Alagille-Watsons dû à une monosomie 20p12"]},"de":{"name":"Alagille-Syndrom durch Mikrodeletion 20p12","synonyms":["Alagille-Syndrom durch Del(20)(p12)","Alagille-Syndrom durch Monosomie 20p12","Alagille-Watson-Syndrom durch Monosomie 20p12","Dysplasie, arteriohepatische, durch Monosomie 20p12","Gallenganghypoplasie, intrahepatische, durch Monosomie 20p12"]},"es":{"name":"Síndrome de Alagille por microdeleción 20p12","synonyms":["Displasia arteriohepática por monosomía 20p12","Síndrome de Alagille por del(20)(p12)","Síndrome de Alagille por monosomía 20p12","Síndrome de Alagille-Watson por monosomía 20p12","Síndrome de escasez de conductos biliares por monosomía 20p12"]},"it":{"name":"Sindrome di Alagille da microdelezione 20p12","synonyms":["Displasia arterio-epatica da monosomia 20p12","Paucità sindromica delle vie biliari da monosomia 20p12","Sindrome di Alagille da del(20)(p12)","Sindrome di Alagille da monosomia 20p12","Sindrome di Alagille-Watson da monosomia 20p12"]},"nl":{"name":"Syndroom van Alagille door 20p12-microdeletie","synonyms":["Aandoening van galwegen door monosomie 20p12","Arteriohepatische dysplasie door monosomie 20p12","Syndroom van Alagille door del(20)(p12)","Syndroom van Alagille door monosomie 20p12","Syndroom van Alagille-Watson door monosomie 20p12"]},"pt":{"name":"Síndrome Alagille por microdeleção 20p12","synonyms":["Síndrome Alagille por monossomia 20p12"]},"pl":{"name":"Zespół Alagille'a z powodu mikrodelecji 20p12","synonyms":["Dysplazja tętniczo-wątrobowa z powodu monosomii 20p12","Syndromic bile duct paucity due to monosomy 20p12","Zespół Alagille'a i Watsona z powodu monosomii 20p12","Zespół Alagille'a z powodu del(20)(p12)","Zespół Alagille'a z powodu monosomii 20p12"]},"cs":{"name":"Alagilleův syndrom způsobený 20p12 mikrodelecí","synonyms":["Alagilleův syndrom způsobený del(20)(p12)","Alagilleův syndrom způsobený monozomií 20p12","Alagilleův-Watsonův syndrom způsobený monozomií 20p12","Arteriohepatická dysplázie způsobená monozomií 20p12","Syndromická nedostatečnost žlučovodu způsobená monozomií 20p12","Alagille-Watsonův syndrom způsobený monozomií 20p12"]},"uk":{"name":"Синдром Алажіля, зумовлений мікроделеціїєю20p12","synonyms":["Синдром Алажиля, зумовлений дефіцитом del(20)(p12)","Синдром Алажиля, зумовлений моносомією 20p12","Синдром Алажиля-Вотсона, зумовлений моносомією 20p12","Артеріопечінкова дисплазія внаслідок моносомії 20p12","Синдром недостатності жовчних проток внаслідок моносомії 20p12"]},"zh":{"name":"20p12微缺失所致Alagille综合征","synonyms":["20p12单体所致综合症性胆管缺乏"]},"tr":{"name":"20p12 mikrodelesyonuna bağlı Alagille sendromu","synonyms":["Del'e bağlı Alagille sendromu (20) (p12)","Monozomi 20p12'ye bağlı Alagille sendromu","Monozomi 20p12'ye bağlı Alagille-Watson sendromu","Monozomi 20p12'ye bağlı arteriyohepatik displazi","Monozomi 20p12'ye bağlı sendromik safra kanalı yetersizliği"]}},"xrefs":[{"source":"OMIM","code":"118450","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q44.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB20.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016861","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679679","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":52,"name":"Alagille syndrome","classifications":[147,148,156,182,183,188,189,202,233]},{"orpha":261992,"name":"Partial deletion of the short arm of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"JAG1","name":"jagged canonical Notch ligand 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21934706[PMID]","hgnc":"6188","ensembl":"ENSG00000101384","omim":"601920","loci":["20p12.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}