Jansen's metaphyseal chondrodysplasia

English

Etymology

Named after Murk Jansen, who wrote about it in the 1930s.

Proper noun

Jansen's metaphyseal chondrodysplasia

  1. A very rare disease resulting from ligand-independent activation of the type 1 parathyroid hormone receptor, leading to various physical abnormalities.
    Synonyms: JMC, Murk Jansen-type metaphyseal chondrodysplasia, Jansen metaphyseal dysostosis, Jansen disease