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Browse result for Pycnodysostosis

※ introduction

    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.

Reference
DiseaseOntology: Pycnodysostosis



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05124P432351513
CTSK
Cathepsin K
Homo sapiens