DOID:0080045 - Kniest dysplasia
Disease Ontology 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.
|MONDO:0007987 - Kniest dysplasia|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : col2a1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): osteochondrodysplasia (is_a)