: Maladies humaines: pyknodysostosis

disease > congenital disease > malformation > pyknodysostosis

disease > genetic disease > hereditary disease > pyknodysostosis

disease > diseases of the osteoarticular system > osteochondrodysplasia > pyknodysostosis

pyknodysostosis

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)

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