{
    "disease_id": "DOID:0060399",
    "recommended_name": {
        "id": "DOID:0060399",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060399",
        "name": "chromosome 16p12.1 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects."
    },
    "synonyms": [
        {
            "id": "MONDO:0007631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "name": "chromosome 16p12.1 deletion syndrome, 520kb",
            "description": "A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects."
        },
        {
            "id": "MONDO:0007631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "name": "Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)",
            "description": ""
        },
        {
            "id": "MONDO:0007631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "name": "chromosome 16p12.1 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007631",
            "name": "chromosome 16p12.1 deletion syndrome, type 520kb",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060399"
    ],
    "unlinked_id_list": []
}