# Jansen's metaphyseal chondrodysplasia

> metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism

**Wikidata**: [Q2964433](https://www.wikidata.org/wiki/Q2964433)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Jansen's_metaphyseal_chondrodysplasia)  
**Source**: https://4ort.xyz/entity/jansen-s-metaphyseal-chondrodysplasia


## References

1. Disease Ontology
2. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
3. [Identifiers.org](https://registry.identifiers.org/registry/doid)
4. UMLS 2023
5. [Genetic and Rare Diseases Information Center](https://rarediseases.info.nih.gov/diseases/79/jansen-type-metaphyseal-chondrodysplasia)