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).

Descriptor ID	D016738
MeSH Number(s)	C06.130.120.135.250.125 C06.552.150.125 C14.240.400.044 C16.131.077.065 C16.131.240.400.044 C16.320.051
Concept/Terms	Alagille Syndrome Alagille Syndrome Syndrome, Alagille Watson-Miller syndrome syndrome, Watson-Miller Alagille Watson Syndrome Alagille Watson Syndromes Syndrome, Alagille Watson Syndromes, Alagille Watson Arteriohepatic Dysplasia Arteriohepatic Dysplasias Dysplasias, Arteriohepatic Watson Alagille Syndrome Syndrome, Watson Alagille Cholestasis with Peripheral Pulmonary Stenosis Dysplasia, Arteriohepatic Hepatic Ductular Hypoplasia, Syndromatic Hepatofacioneurocardiovertebral Syndrome Hepatofacioneurocardiovertebral Syndromes Syndrome, Hepatofacioneurocardiovertebral Syndromes, Hepatofacioneurocardiovertebral Watson Miller Syndrome Syndrome, Watson Miller Cardiovertebral Syndrome Cardiovertebral Syndromes Syndrome, Cardiovertebral Syndromes, Cardiovertebral Alagille Syndrome 2 Alagille Syndrome 2 Paucity of Interlobular Bile Ducts Paucity of Interlobular Bile Ducts Hepatic Ductular Hypoplasia Ductular Hypoplasia, Hepatic Ductular Hypoplasias, Hepatic Hepatic Ductular Hypoplasias Hypoplasia, Hepatic Ductular Hypoplasias, Hepatic Ductular Alagille Syndrome 1 Alagille Syndrome 1

Below are MeSH descriptors whose meaning is more general than "Alagille Syndrome".

Below are MeSH descriptors whose meaning is related to "Alagille Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Alagille Syndrome".