# Noonan syndrome 8

> Noonan syndrome that has material basis in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22

**Wikidata**: [Q26492796](https://www.wikidata.org/wiki/Q26492796)  
**Source**: https://4ort.xyz/entity/noonan-syndrome-8


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)