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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).
推出的年份: 1992
副标题
树号: C06.130.120.135.250.125, C06.552.150.125, C14.240.400.044, C16.131.077.065, C16.131.240.400.044, C16.320.051
MeSH 单一 ID: D016738
进入的组:
  • Syndrome, Alagille
  • Alagille's Syndrome
  • Alagilles Syndrome
  • Syndrome, Alagille's
  • Alagille-Watson Syndrome
  • Syndrome, Alagille-Watson
  • Arteriohepatic Dysplasia
  • Cardiovertebral Syndrome
  • Syndrome, Cardiovertebral
  • Arteriohepatic Dysplasia (AHD)
  • Dysplasia, Arteriohepatic (AHD)
  • Dysplasia, Arteriohepatic
  • Hepatic Ductular Hypoplasia, Syndromatic
  • Hepatofacioneurocardiovertebral Syndrome
  • Syndrome, Hepatofacioneurocardiovertebral
  • Watson Alagille Syndrome
  • Syndrome, Watson Alagille
  • Watson Miller Syndrome
  • Syndrome, Watson Miller
  • Watson-Miller syndrome
  • syndrome, Watson-Miller
  • Alagille Watson Syndrome
  • Syndrome, Alagille Watson
  • Cholestasis with Peripheral Pulmonary Stenosis
  • Alagille Syndrome 2
  • Paucity of Interlobular Bile Ducts
  • Hepatic Ductular Hypoplasia
  • Ductular Hypoplasia, Hepatic
  • Hypoplasia, Hepatic Ductular
  • Alagille Syndrome 1
早前的内容:
  • Abnormalities, Multiple (1981-1991)
  • Bile Ducts, Intrahepatic/abnormalities (1980-1991)
  • Cholestasis, Intrahepatic (1979-1991)
  • Pulmonary Artery/abnormalities (1988-1991)

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