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Disease Ontology Browser
cleidocranial dysplasia (DOID:13994)
Alliance: disease page
Synonyms: cleidocranial dysostosis; Marie-Sainton Disease
Alt IDs: OMIM:119600, OMIM:216330, ICD10CM:Q74.0, MESH:D002973, NCI:C75020, ORDO:1452, UMLS_CUI:C0008928
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.

Disease References using Mouse Models (10)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory