# Singleton Merten syndrome

> medical condition

**Wikidata**: [Q17125786](https://www.wikidata.org/wiki/Q17125786)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Singleton_Merten_syndrome)  
**Source**: https://4ort.xyz/entity/singleton-merten-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000115267/MONDO_0008429)
4. Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.