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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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory