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cerebrotendinous xanthomatosis
MONDO:0008948
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
MONDO:0016203
bile acid CoA ligase deficiency and defective amidation
MONDO:0017165
idiopathic malabsorption due to bile acid synthesis defects
MONDO:0019393
hypercholanemia, familial, 2
MONDO:0031003
hypercholanemia, familial 1
MONDO:0031446