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Alagilleov syndróm

  1. Subject h.Alagilleov syndróm
    Subject h.Alagille Syndrome
    Entry termsdysplázia hepatálnych artérií
    dysplázia artériohepatická
    English X referencesArteriohepatic Dysplasia
    Dysplasia, Arteriohepatic
    Scope note in EnglishA 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).
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