DISEASES

Disease-gene associations mined from literature

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