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Summary Literature (0)
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.

Synonyms:


In Mondo Disease Ontology:
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)