# brachyolmia

> osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature

**Wikidata**: [Q18553406](https://www.wikidata.org/wiki/Q18553406)  
**Source**: https://4ort.xyz/entity/brachyolmia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
4. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)