# Lathosterolosis

> Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease

**Wikidata**: [Q6495941](https://www.wikidata.org/wiki/Q6495941)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Lathosterolosis)  
**Source**: https://4ort.xyz/entity/lathosterolosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000109929/MONDO_0011816)