Concept information
Preferred term
Jansen metaphyseal chondrodysplasia
Definition(s)
- Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 (PTH1R) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). (Wikipedia)
Broader concept(s)
Synonym(s)
- Jansen dysostose
In other languages
-
French
-
dysostose métaphysaire de type Jansen
URI
http://data.loterre.fr/ark:/67375/VH8-V6BTTPBK-T
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