| Type | MGI:General | Description | Cebpbtm1Kish,/sup> homozygotes exhibit prospective signs of cleidocranial dysplasia (CCD, DOID:13994), including hypoplastic clavicles, a narrow thoracic cage, and a downward tilted zygomatic arch. These could provide an additional aetiological factor of CCD. Annotated to the higher level term osteochondrodysplasia DOID:2256 as CCD is defined as "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". |
