Kniest dysplasia (DOID:0080045)
Alliance: disease page
Alt IDs: OMIM:156550, MESH:C537207
Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.