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Summary Literature (0)
DOID:13994 - cleidocranial dysplasia

Disease Ontology Definition:An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.

Synonyms: Marie-Sainton Disease, cleidocranial dysostosis,

Xenbase Genes : runx2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007340 - cleidocranial dysplasia 1


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

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