|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||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. (Human Disease Ontology, DOID_0080045)|
|Downloads & Tools|
1 genes/proteins associated with the disease Kniest dysplasia from the curated CTD Gene-Disease Associations dataset.
|COL2A1||collagen, type II, alpha 1||2.88009|