Congenital bile acid synthesis defect 5
MONDO:0014564Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.
Also known as: ABCD3 congenital bile acid synthesis defect, CBAS5, bile acid synthesis defect, congenital, type 5, congenital bile acid synthesis defect caused by mutation in ABCD3, congenital bile acid synthesis defect type 5, bile acid synthesis defect, congenital, 5
1 clinical trial for this condition and its sub-types.
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Disease
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Metabolic disease
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Inherited lipid metabolism disorder
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Disease of genetic or genomic mechanism
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Peroxisomal disease
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Congenital bile acid synthesis defect
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