# congenital bile acid synthesis defect 1

> Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption

**Wikidata**: [Q42863605](https://www.wikidata.org/wiki/Q42863605)  
**Source**: https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-1


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. The bile acid synthetic gene 3β-hydroxy-Δ5-C27-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000099377/MONDO_0011906)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000099377/Orphanet_79301)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)