Human genes for Kniest dysplasia
Kniest dysplasia [DOID:0080045]
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.
Synonyms: Kniest dysplasia, DOID:0080045, Kniest dysplasias
Linkouts: OMIM