# cerebrotendinous xanthomatosis

> autosomal recessive form of xanthomatosis.

**Wikidata**: [Q2602467](https://www.wikidata.org/wiki/Q2602467)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cerebrotendinous_xanthomatosis)  
**Source**: https://4ort.xyz/entity/cerebrotendinous-xanthomatosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000135929/MONDO_0008948)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)