{
    "disease_id": "DOID:0070515",
    "recommended_name": {
        "id": "DOID:0070515",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070515",
        "name": "chromosome 16p11.2 deletion syndrome, 593-kb",
        "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb)."
    },
    "synonyms": [
        {
            "id": "DOID:0070515",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070515",
            "name": "Proximal 16p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "proximal 16p11.2 microdeletion syndrome",
            "description": "A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity."
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "autism susceptibility 14A",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "chromosome 16p11.2 deletion syndrome, 593kb",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "proximal del(16)(p11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "proximal monosomy 16p11.2",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "16p11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "Del(16)(p11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "chromosome 16p11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "microdeletion 16p11.2",
            "description": ""
        },
        {
            "id": "MONDO:0012756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012756",
            "name": "monosomy 16p11.2",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070515"
    ],
    "unlinked_id_list": []
}