Dysplasia,Arteriohepatic

《英文msh詞典》Dysplasia,Arteriohepatic
[同義詞] Dysplasia,Arteriohepatic
[主題詞] Alagille Syndrome
[中文釋義] 發育不良,肝動脈
[英文釋義] An autosomal dominant MUTATION involving CHROMOSOME 20. It is characterized by the almost normal LIVER that has few or no intrahepatic bile ducts (BILE DUCTS,INTRAHEPATIC). 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.