_:vb50940267 . _:vb50940267 . "disease_ontology"^^ . . "ORDO:763"^^ . . _:vb50940267 . _:vb50940267 . _:vb50940268 . _:vb50940268 . "MESH:D058631"^^ . _:vb50940267 . . _:vb50940268 . "GARD:4611"^^ . "OMIM:265800"^^ . . _:vb50940268 . _:vb50940268 . "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."^^ .