| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | 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. (Human Disease Ontology, DOID_0080045) |
| External Link | https://www.disgenet.org/browser/0/1/0/C0265279 |
| Similar Terms | |
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4 genes associated with the disease Kniest Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
