[autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis. ( CSP )]
UMLS (CSP) C0085280 Relation/PAR: Abnormalities, Multiple
bile obstruction
Cholestasis, Intrahepatic
Genetic Condition
syndrome
congenital heart disorder