# congenital bile acid synthesis defect

> steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver

**Wikidata**: [Q9398222](https://www.wikidata.org/wiki/Q9398222)  
**Source**: https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. [Identifiers.org](https://registry.identifiers.org/registry/doid)
4. UMLS 2023