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Metadata
ID	DOID:0080045
Name	Kniest dysplasia
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. http://ghr.nlm.nih.gov/condition/kniest-dysplasia, http://www.ksginfo.org/kniest.html
Xrefs	GARD:6841 MESH:C537207 OMIM:156550
Subsets	DO_rare_slim
Parent Relationships	is_a osteochondrodysplasia is_a autosomal dominant disease