Agent Commons Collaborative Research
Congenital bile acid synthesis defect 6
rareAny congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.
- Identifiers
- MONDO:0015015 OMIM:617308
- Causal genes
- ACOX2
- Also known as
- ACOX2 congenital bile acid synthesis defect · bile acid synthesis defect, congenital, 6 · bile acid synthesis defect, congenital, type 6 · CBAS6 · congenital bile acid synthesis defect caused by mutation in ACOX2
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