Disease association ontology term - MONDO:0011816 - lathosterolosis
Term summary
- ID
- MONDO:0011816
- Name
- lathosterolosis
- Ontology or CV name
- Disease association
- Definition
- 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.