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Cholestasis, progressive familial intrahepatic 3 MeSH Supplementary Concept Data 2025


MeSH Supplementary
Cholestasis, progressive familial intrahepatic 3
Unique ID
C535935
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535935
Entry Term(s)
Abcb4-Related Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase
Low gamma-GT Familial Intrahepatic Cholestasis
MDR3 Deficiency
PFIC3 Progressive familial intrahepatic cholestasis type 3
Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3)
Progressive Familial Intrahepatic Cholestasis 3 (PFIC3)
Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
Registry Numbers
0
Heading Mapped to
*Cholestasis, Intrahepatic
ATP Binding Cassette Transporter, Subfamily B / deficiency
Frequency
62
Note
A hereditary autsomal recessive form of intrahepatic cholestasis characterized by childhood onset of CHOLESTASIS that progresses to hepatic FIBROSIS, cirrhosis, and END-STAGE LIVER DISEASE before adulthood. Mutations in the ABCB4 gene have been identified. OMIM: 602347
Date of Entry
2010/08/25
Revision Date
2019/06/18
Cholestasis, progressive familial intrahepatic 3 Preferred
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