# Desmosterolosis

> Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol

**Wikidata**: [Q5264836](https://www.wikidata.org/wiki/Q5264836)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Desmosterolosis)  
**Source**: https://4ort.xyz/entity/desmosterolosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000116133/MONDO_0011217)