DISEASES

Disease-gene associations mined from literature

Human genes for cleidocranial dysplasia

Cleidocranial dysplasia [DOID:13994]

An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in underveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.

Synonyms:  cleidocranial dysplasia,  DOID:13994,  Marie-Sainton Disease,  MarieSainton Disease,  Marie-Sainton disorder ...

Linkouts:  OMIM #1 #2