# multiple synostoses syndrome

> dysostosis that is characterized by premature joint ankylosis and has material basis in autosomal dominant inhertitance

**Wikidata**: [Q18553479](https://www.wikidata.org/wiki/Q18553479)  
**Source**: https://4ort.xyz/entity/multiple-synostoses-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. GDF5 is a second locus for multiple-synostosis syndrome.
5. Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene
6. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)