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Cholestasis, progressive familial intrahepatic 2 MeSH Supplementary Concept Data 2024


MeSH Supplementary
Cholestasis, progressive familial intrahepatic 2
Unique ID
C535934
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535934
Entry Term(s)
Benign recurrent intrahepatic cholestasis 2 (BRIC2)
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholestasis, benign recurrent intrahepatic 2
PFIC2 Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis 2
Registry Number
0
Heading Mapped to
*Cholestasis, Intrahepatic
Frequency
73
Note
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 of Entry
2010/08/25
Revision Date
2019/06/18
Cholestasis, progressive familial intrahepatic 2 Preferred
Benign recurrent intrahepatic cholestasis 2 (BRIC2) Narrower
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