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Echinobase
Summary Literature (0)
DOID:0080038 - pycnodysostosis

Disease Ontology 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.

Synonyms:

Echinobase Genes :


OMIM:
MIM:265800 - pycnodysostosis

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)