Term Name:	Kniest dysplasia
Synonyms:
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.
Ontology:	Human Disease [DOID:0080045]   ( DOID:0080045 )