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Bile acid synthesis defect, congenital, 1 MeSH Supplementary Concept Data 2024


MeSH Supplementary
Bile acid synthesis defect, congenital, 1
Unique ID
C535442
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535442
Entry Term(s)
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
Cholestasis, progressive familial intrahepatic 4
Congenital Bile Acid Synthesis Defect Type 1 (CBAS1)
PFIC4 Progressive familial intrahepatic cholestasis type 4
Progressive familial intrahepatic cholestasis 4
Registry Number
0
Heading Mapped to
*Cholestasis
*Steroid Metabolism, Inborn Errors
Frequency
6
Date of Entry
2010/08/25
Revision Date
2019/06/18
Bile acid synthesis defect, congenital, 1 Preferred
Cholestasis, progressive familial intrahepatic 4 Related
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