# congenital bile acid synthesis defect 6

> human disease

**Wikidata**: [Q32146742](https://www.wikidata.org/wiki/Q32146742)  
**Source**: https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-6


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)