{
    "disease_id": "DOID:1928",
    "recommended_name": {
        "id": "DOID:1928",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:1928",
        "name": "Williams-Beuren syndrome",
        "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23."
    },
    "synonyms": [
        {
            "id": "DOID:1928",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1928",
            "name": "Fanconi Schlesinger syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "Williams syndrome",
            "description": "Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)"
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "deletion 7q11.23",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "Williams-Beuren syndrome (WBS)",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "WBS",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "Fanconi Schlesinger syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "monosomy 7q11.23",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "Williams-Beuren syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "WMS",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "Williams-Beuren syndrome; WBS",
            "description": ""
        },
        {
            "id": "MONDO:0008678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008678",
            "name": "Williams syndrome",
            "description": ""
        }
    ]
}