Congenital bile acid synthesis defect 6

Definition

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.

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, congenital bile acid synthesis defect type 6 — per MONDO

Also identified as

• DOID 0111067 per MONDO
• OMIM 617308 per MONDO
• UMLS C4310624 per MONDO