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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

Parent Relationships

is_a osteochondrodysplasia

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