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.