inborn disorder of bile acid synthesis
MONDO:0019218Mondo
Findings
No curated finding names inborn disorder of bile acid synthesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
Definition from the Mondo Disease Ontology (MONDO:0019218), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
4 names
Resolves to: inborn disorder of bile acid synthesis
- Also called
- Bile Acid Synthesis Disordersinborn bile acid biosynthetic process disorderinborn error of bile acid biosynthetic processrare inborn error of bile acid biosynthetic process