{
    "disease_id": "DOID:0080045", 
    "synonyms": [], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080045", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080045", 
        "name": "Kniest dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080045#disease-associations", 
            "id": "0080045", 
            "database": "Alliance of Genome Resources"
        }
    ]
}