# congenital bile acid synthesis defect 2

> Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins

**Wikidata**: [Q42863601](https://www.wikidata.org/wiki/Q42863601)  
**Source**: https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-2


## References

1. Disease Ontology
2. Mondo Disease Ontology
3. UniProt
4. Mutations in SRD5B1 ( AKR1D1 ), the gene encoding Δ 4 -3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000122787/MONDO_0009339)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000122787/Orphanet_79303)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)