{
    "disease_id": "DOID:0080334",
    "recommended_name": {
        "id": "DOID:0080334",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080334",
        "name": "aortic valve disease 2",
        "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0013902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013902",
            "name": "aortic valve disease 2",
            "description": "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene."
        },
        {
            "id": "MONDO:0013902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013902",
            "name": "SMAD6 aortic valve disease",
            "description": ""
        },
        {
            "id": "MONDO:0013902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013902",
            "name": "aortic valve disease 2",
            "description": ""
        },
        {
            "id": "MONDO:0013902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013902",
            "name": "aortic valve disease caused by mutation in SMAD6",
            "description": ""
        },
        {
            "id": "MONDO:0013902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013902",
            "name": "aortic valve disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013902",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013902",
            "name": "AOVD2",
            "description": ""
        },
        {
            "id": "MIM:614823",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614823",
            "name": "Aortic valve disease 2",
            "description": "Aortic valve disease 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080334"
    ],
    "unlinked_id_list": []
}