Term Name: | cleidocranial dysplasia |
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Synonyms: | cleidocranial dysostosis, Marie-Sainton Disease |
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. |
Ontology: | Human Disease [DOID:13994] ( DOID:13994 ) |