{
    "disease_id": "DOID:0080045",
    "recommended_name": {
        "id": "DOID:0080045",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080045",
        "name": "Kniest dysplasia",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0007987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007987",
            "name": "Kniest dysplasia",
            "description": "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)."
        },
        {
            "id": "MONDO:0007987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007987",
            "name": "Kniest dysplasia",
            "description": ""
        },
        {
            "id": "MIM:156550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156550",
            "name": "Kniest dysplasia",
            "description": "Kniest dysplasia"
        }
    ]
}