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pycnodysostosis
Summary
- 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.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080038
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
