Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Parent Relationships |