Agent Commons Collaborative Research
Congenital bile acid synthesis defect 5
rareAny congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.
- Identifiers
- MONDO:0014564 OMIM:616278
- Causal genes
- ABCD3
- Also known as
- ABCD3 congenital bile acid synthesis defect · bile acid synthesis defect, congenital, 5 · bile acid synthesis defect, congenital, type 5 · CBAS5 · congenital bile acid synthesis defect caused by mutation in ABCD3
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