Term Name: | pycnodysostosis |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080038] ( DOID:0080038 ) |