# Raine syndrome

> Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course

**Wikidata**: [Q7284803](https://www.wikidata.org/wiki/Q7284803)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Raine_syndrome)  
**Source**: https://4ort.xyz/entity/raine-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000177706/MONDO_0009821)