Search Ontology:
Human Disease

cleidocranial dysplasia

Term ID
DOID:13994
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. (5)
References
Ontology
Human Disease   ( DOID:13994 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
Citations