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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

Referenced OMIM:
OMIM:119600 - CLEIDOCRANIAL DYSPLASIA; CCD
OMIM:216330 - CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : runx2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)


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