Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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:

Xenbase Genes : ctsk

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009940 - pycnodysostosis

MIM:
MIM:265800 - PYCNODYSOSTOSIS

Other Model Organisms: Alliance, 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)