|OBO ID: DOID:0080045|
|Term Name:||Kniest dysplasia||Search 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. (2)|
|Ontology:||Human Disease (DOID:0080045)|
|is a type of:||
OTHER Kniest dysplasia PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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