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 )

Relationships
is a type of: autosomal recessive disease osteochondrodysplasia