Alagille syndrome (arteriohepatic dysplasia) 1995

G Santoro, and R Formigari, and L Ballerini, and D Di Carlo

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011664 Pulmonary Valve A valve situated at the entrance to the pulmonary trunk from the right ventricle. Pulmonary Valves,Valve, Pulmonary,Valves, Pulmonary
D006330 Heart Defects, Congenital Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006352 Heart Ventricles The lower right and left chambers of the heart. The right ventricle pumps venous BLOOD into the LUNGS and the left ventricle pumps oxygenated blood into the systemic arterial circulation. Cardiac Ventricle,Cardiac Ventricles,Heart Ventricle,Left Ventricle,Right Ventricle,Left Ventricles,Right Ventricles,Ventricle, Cardiac,Ventricle, Heart,Ventricle, Left,Ventricle, Right,Ventricles, Cardiac,Ventricles, Heart,Ventricles, Left,Ventricles, Right
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016738 Alagille 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). Arteriohepatic Dysplasia,Dysplasia, Arteriohepatic,Alagille Syndrome 1,Alagille Syndrome 2,Alagille Watson Syndrome,Alagille's Syndrome,Alagille-Watson Syndrome,Arteriohepatic Dysplasia (AHD),Cardiovertebral Syndrome,Cholestasis with Peripheral Pulmonary Stenosis,Hepatic Ductular Hypoplasia,Hepatic Ductular Hypoplasia, Syndromatic,Hepatofacioneurocardiovertebral Syndrome,Paucity of Interlobular Bile Ducts,Watson Alagille Syndrome,Watson Miller Syndrome,Watson-Miller syndrome,Alagilles Syndrome,Ductular Hypoplasia, Hepatic,Dysplasia, Arteriohepatic (AHD),Hypoplasia, Hepatic Ductular,Syndrome, Alagille,Syndrome, Alagille Watson,Syndrome, Alagille's,Syndrome, Alagille-Watson,Syndrome, Cardiovertebral,Syndrome, Hepatofacioneurocardiovertebral,Syndrome, Watson Alagille,Syndrome, Watson Miller,syndrome, Watson-Miller
D017809 Fatal Outcome Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal

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