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hypercholanemia
elevated serum bile acid concentrations
Genetics:
- familial forms associated with defects in BAAT, EPHX1, TJP2 genes
Clinical manifestations:
- itching
- fat malabsorption
Laboratory:
- elevated serum bile acid concentrations
General
sign/symptom
Database Correlations
OMIM 607748
References
OMIM :accession 607748