Term Name: cleidocranial dysplasia
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 )

Relationships
is a type of: autosomal dominant disease osteochondrodysplasia