Alagille Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D016738


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

Synonyms

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

AQL

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

DC

1

DX

19920101

HN

92

MDA

19910429

MMR

20130708

MN

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

PM

92

QB

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

SIB

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

TERMUI

T844113,T521201,T521200,T763950,T685804,T685803,T763949,T050179,T763947,T782149,T763946,T050178,T050177,T840848,T811985,T770105,T770104,T782150

TH

NLM (2008),GHR (2014),NLM (1992),ORD (2010),OMIM (2013),NLM (2011),NLM (2004),NLM (2012)

cui

C1956125,C2930797,C1857761,C0085280

hasSTY

http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019

tui

T019,T047

Instance relations

Types