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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Alagille Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Alagille Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Alagille Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Alagille Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Alagille Syndrome
Digestive System Diseases > Liver Diseases > Cholestasis, Intrahepatic > Alagille Syndrome
... > Digestive System Diseases > Biliary Tract Diseases > Bile Duct Diseases > Cholestasis > Cholestasis, Intrahepatic > Alagille Syndrome

Preferred term

Alagille Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Alagille's Syndrome
  • Alagilles Syndrome
  • Alagille Watson Syndrome
  • Alagille-Watson Syndrome
  • Arteriohepatic Dysplasia
  • Arteriohepatic Dysplasia (AHD)
  • Cardiovertebral Syndrome
  • Cholestasis with Peripheral Pulmonary Stenosis
  • Dysplasia, Arteriohepatic
  • Dysplasia, Arteriohepatic (AHD)
  • Hepatic Ductular Hypoplasia, Syndromatic
  • Hepatofacioneurocardiovertebral Syndrome
  • Syndrome, Alagille's
  • Syndrome, Alagille Watson
  • Syndrome, Alagille-Watson
  • Syndrome, Cardiovertebral
  • Syndrome, Hepatofacioneurocardiovertebral
  • Syndrome, Watson Alagille
  • Syndrome, Watson Miller
  • syndrome, Watson-Miller
  • Watson Alagille Syndrome
  • Watson Miller Syndrome
  • Watson-Miller syndrome

Scope note

  • 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).

History note

  • 92

In other languages

URI

http://www.yso.fi/onto/mesh/D016738

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