| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | 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. (Human Disease Ontology, DOID_13994) |
| External Link | http://www.omim.org/entry/119600 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Cleidocranial dysostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| RUNX2 | runt-related transcription factor 2 |
