Patient (condition)
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alagile syndrome
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).
www.nlm.nih.gov/cgi/mesh/...
www.nlm.nih.gov/cgi/mesh/...
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Mar 05, 2013