Cure My Disease

Don't miss your cure!

Log in / Sign up

Congenital bile acid synthesis defect

MONDO:0018841

Also known as: BASD, bile acid synthesis defect, congenital, cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency

2 clinical trials for this condition and its sub-types, 1 tagged with Congenital bile acid synthesis defect itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Steroid inherited metabolic disorder (39)

Sub-types of Congenital bile acid synthesis defect

Congenital bile acid synthesis defect 1 1 trial
Congenital bile acid synthesis defect 2 1 trial
Congenital bile acid synthesis defect 3 0 trials
Congenital bile acid synthesis defect 4 0 trials
Congenital bile acid synthesis defect 5 0 trials
Congenital bile acid synthesis defect 6 0 trials

Including sub-types (2) Tagged with Congenital bile acid synthesis defect (1)

Not yet finished but already full! 1

120,000-Person study hopes to crack the code of chronic illness

Knowledge-focused Paused

This observational study plans to enroll 120,000 people with various chronic diseases like pancreatitis, diabetes, and arthritis. Researchers will collect blood samples and health data to study how genetics and lifestyle affect disease progression. The goal is to find common dise…

Sponsor: University of Pittsburgh • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:08 UTC