A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Instance info
Syndrome, Alagille-Watson, Syndrome, Watson Alagille, Hypoplasia, Hepatic Ductular, Hepatofacioneurocardiovertebral Syndrome, Cardiovertebral Syndrome, Dysplasie, arteriohepatische (DE), Syndrome, Hepatofacioneurocardiovertebral, syndrome, Watson-Miller, Arteriohepatic Dysplasia, Syndrome, Alagille's, Dysplasia, Arteriohepatic, Watson Alagille Syndrome, Alagille Syndrome 2, Syndrome, Alagille, Alagille Syndrome 1, Alagilles Syndrome, Arteriohepatic Dysplasia (AHD), Syndrome, Cardiovertebral, Alagille-Watson Syndrome, Syndrome, Alagille Watson, Alagille-Syndrom 2 (DE), Arteriohepatische Dysplasie (DE), Syndrome, Watson Miller, Paucity of Interlobular Bile Ducts, Cholestasis with Peripheral Pulmonary Stenosis, Alagille's Syndrome, Alagille-Syndrom (DE), Alagille Watson Syndrome, Ductular Hypoplasia, Hepatic, Hepatic Ductular Hypoplasia, Watson-Miller syndrome, Watson Miller Syndrome, Alagille-Syndrom 1 (DE), Dysplasia, Arteriohepatic (AHD), Hepatic Ductular Hypoplasia, Syndromatic
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
1
19920101
92
19910429
20130708
C16.320.051,C16.131.077.065,C16.131.240.400.044,C14.240.400.044,C06.552.150.125,C06.130.120.135.250.125
92
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
http://purl.bioontology.org/ontology/MESH/D000073839,http://purl.bioontology.org/ontology/MESH/D017436,http://purl.bioontology.org/ontology/MESH/D009136,http://purl.bioontology.org/ontology/MESH/D014286,http://purl.bioontology.org/ontology/MESH/D011218,http://purl.bioontology.org/ontology/MESH/D010009,http://purl.bioontology.org/ontology/MESH/D025063,http://purl.bioontology.org/ontology/MESH/D014849,http://purl.bioontology.org/ontology/MESH/D010004,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D000312,http://purl.bioontology.org/ontology/MESH/D004476,http://purl.bioontology.org/ontology/MESH/D003420,http://purl.bioontology.org/ontology/MESH/D054975,http://purl.bioontology.org/ontology/MESH/D052159,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D054179,http://purl.bioontology.org/ontology/MESH/D050010,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D016878,http://purl.bioontology.org/ontology/MESH/D065768,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D017204,http://purl.bioontology.org/ontology/MESH/D015785,http://purl.bioontology.org/ontology/MESH/D000073842,http://purl.bioontology.org/ontology/MESH/D020294,http://purl.bioontology.org/ontology/MESH/D001478,http://purl.bioontology.org/ontology/MESH/D007619,http://purl.bioontology.org/ontology/MESH/D020331,http://purl.bioontology.org/ontology/MESH/D003410,http://purl.bioontology.org/ontology/MESH/D025861,http://purl.bioontology.org/ontology/MESH/D009634,http://purl.bioontology.org/ontology/MESH/D007979,http://purl.bioontology.org/ontology/MESH/D007690,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D054083,http://purl.bioontology.org/ontology/MESH/D014188,http://purl.bioontology.org/ontology/MESH/D010381,http://purl.bioontology.org/ontology/MESH/D008661,http://purl.bioontology.org/ontology/MESH/D013771,http://purl.bioontology.org/ontology/MESH/D018785,http://purl.bioontology.org/ontology/MESH/D007849,http://purl.bioontology.org/ontology/MESH/D000071070,http://purl.bioontology.org/ontology/MESH/D054877,http://purl.bioontology.org/ontology/MESH/D053306,http://purl.bioontology.org/ontology/MESH/D001506,http://purl.bioontology.org/ontology/MESH/D019082,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D058495,http://purl.bioontology.org/ontology/MESH/D058496,http://purl.bioontology.org/ontology/MESH/D058497,http://purl.bioontology.org/ontology/MESH/D008133,http://purl.bioontology.org/ontology/MESH/D040181,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D044542,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D003914,http://purl.bioontology.org/ontology/MESH/D016142,http://purl.bioontology.org/ontology/MESH/D054062,http://purl.bioontology.org/ontology/MESH/D003635,http://purl.bioontology.org/ontology/MESH/D015211,http://purl.bioontology.org/ontology/MESH/D006343,http://purl.bioontology.org/ontology/MESH/D058502,http://purl.bioontology.org/ontology/MESH/D014927,http://purl.bioontology.org/ontology/MESH/D019896,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D011535,http://purl.bioontology.org/ontology/MESH/D004437,http://purl.bioontology.org/ontology/MESH/D004314,http://purl.bioontology.org/ontology/MESH/D053840,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D050174,http://purl.bioontology.org/ontology/MESH/D014898,http://purl.bioontology.org/ontology/MESH/D012873,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D059446,http://purl.bioontology.org/ontology/MESH/D006453,http://purl.bioontology.org/ontology/MESH/D004392,http://purl.bioontology.org/ontology/MESH/D016715,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D029502,http://purl.bioontology.org/ontology/MESH/D004541,http://purl.bioontology.org/ontology/MESH/D046589,http://purl.bioontology.org/ontology/MESH/D003330,http://purl.bioontology.org/ontology/MESH/D008105,http://purl.bioontology.org/ontology/MESH/D054000,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D000745,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D058165,http://purl.bioontology.org/ontology/MESH/D014424,http://purl.bioontology.org/ontology/MESH/D031845,http://purl.bioontology.org/ontology/MESH/D024741,http://purl.bioontology.org/ontology/MESH/D056735,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D056733,http://purl.bioontology.org/ontology/MESH/D000077428,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D002636,http://purl.bioontology.org/ontology/MESH/D019280,http://purl.bioontology.org/ontology/MESH/D003966,http://purl.bioontology.org/ontology/MESH/D000699,http://purl.bioontology.org/ontology/MESH/D012410,http://purl.bioontology.org/ontology/MESH/D009386,http://purl.bioontology.org/ontology/MESH/D018636,http://purl.bioontology.org/ontology/MESH/D001260,http://purl.bioontology.org/ontology/MESH/D004374,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D012415,http://purl.bioontology.org/ontology/MESH/D005736,http://purl.bioontology.org/ontology/MESH/D019571,http://purl.bioontology.org/ontology/MESH/D020271,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D003310,http://purl.bioontology.org/ontology/MESH/D003550,http://purl.bioontology.org/ontology/MESH/D001816,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D056684,http://purl.bioontology.org/ontology/MESH/D001017
T844113,T521201,T521200,T763950,T685804,T685803,T763949,T050179,T763947,T782149,T763946,T050178,T050177,T840848,T811985,T770105,T770104,T782150
NLM (2008),GHR (2014),NLM (1992),ORD (2010),OMIM (2013),NLM (2011),NLM (2004),NLM (2012)
C1956125,C2930797,C1857761,C0085280
http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019
T019,T047