{
    "disease_id": "DOID:0081318",
    "recommended_name": {
        "id": "DOID:0081318",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081318",
        "name": "multiple synostoses syndrome 2",
        "description": "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "multiple synostoses syndrome 2",
            "description": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene."
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "GDF5 multiple synostoses syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "multiple synostoses syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "multiple synostoses syndrome caused by mutation in GDF5",
            "description": ""
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "multiple synostoses syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012394",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012394",
            "name": "SYNS2",
            "description": ""
        },
        {
            "id": "MIM:610017",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610017",
            "name": "Multiple synostoses syndrome 2",
            "description": "Multiple synostoses syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081318"
    ],
    "unlinked_id_list": []
}