Cholestasis, progressive familial intrahepatic 2 [Supplementary Concept]

A hereditary autosomal recessive form of intrahepatic cholestasis that is phenotypically similar to progressive familial intrahepatic cholestasis I (OMIM: 211600). Note that progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2 (OMIM: 605479) are allelic disorders caused by mutations in the ABCB11 gene. OMIM: 601847

Date introduced: August 25, 2010

MeSH Unique ID: C535934

Heading Mapped to:

• Cholestasis, Intrahepatic

Entry Terms:

• PFIC2 Progressive familial intrahepatic cholestasis type 2
• Progressive familial intrahepatic cholestasis 2
• Benign recurrent intrahepatic cholestasis 2 (BRIC2)
• Cholestasis, benign recurrent intrahepatic 2
• Cholestasis, Benign Recurrent Intrahepatic, 2