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ID	DOID:0080038
Name	pycnodysostosis
Definition	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. http://en.wikipedia.org/wiki/Pycnodysostosis
Xrefs	GARD:4611 MESH:D058631 OMIM:265800 ORDO:763
Subsets	DO_rare_slim
Parent Relationships	is_a osteochondrodysplasia is_a autosomal recessive disease