Jansen's metaphyseal chondrodysplasia
Appearance
English
[edit]Etymology
[edit]Named after Murk Jansen, who wrote about it in the 1930s.
Proper noun
[edit]Jansen's metaphyseal chondrodysplasia
- A very rare disease resulting from ligand-independent activation of the type 1 parathyroid hormone receptor, leading to various physical abnormalities.