Pycnodysostosis

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What Wikipedia says

Pycnodysostosis (from Greek πυκνός (puknos) '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. It is also known as PKND and PYCD.

Excerpt from the Wikipedia article “Pycnodysostosis”, under the CC BY-SA 4.0 license. Read the article on Wikipedia

Image: Sydney S. Gellis and Murray Feingold, Public domain, via Wikimedia Commons.