# parastremmatic dwarfism

> very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs

**Wikidata**: [Q7136039](https://www.wikidata.org/wiki/Q7136039)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Parastremmatic_dwarfism)  
**Source**: https://4ort.xyz/entity/parastremmatic-dwarfism


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations
5. BabelNet
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)