| Term Name: | pycnodysostosis |
|---|---|
| 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 ) |