Concept information
Preferred term
pyknodysostosis
Definition
- Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", dys ("defective"), and ostosis ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. (Wikipedia)
Broader concept
In other languages
-
French
URI
http://data.loterre.fr/ark:/67375/VH8-XDR2MLWZ-3
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