Category:Kniest dysplasia

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.

equivalent URI:=http://purl.obolibrary.org/obo/DOID_0080045