Congenital bile acid synthesis defect 5

Definition

Any 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, bile acid synthesis defect, congenital, type 5, CBAS5, congenital bile acid synthesis defect caused by mutation in ABCD3, congenital bile acid synthesis defect type 5 — per MONDO

Also identified as

• DOID 0111066 per MONDO
• OMIM 616278 per MONDO
• UMLS C4225390 per MONDO