CYP7B1-related disorder of oxysterol accumulation

Definition

Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body.

Also known as CYP7B1-related disorder of oxysterol accumulation — per MONDO