# Rienhoff syndrome

> human disease

**Wikidata**: [Q55784755](https://www.wikidata.org/wiki/Q55784755)  
**Source**: https://4ort.xyz/entity/rienhoff-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000119699/EFO_1000012)