Human genes for pycnodysostosis
Pycnodysostosis [DOID:0080038]
An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
Synonyms: pycnodysostosis, DOID:0080038, pycnodysostosises
Linkouts: OMIM