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Metadata
ID DOID:0080038
Name pycnodysostosis
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.
http://en.wikipedia.org/wiki/Pycnodysostosis
Xrefs

GARD:4611

MESH:D058631

MIM:265800

ORDO:763

Subsets

DO_rare_slim

Parent Relationships

is_a osteochondrodysplasia

is_a autosomal recessive disease

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