{
    "disease_id": "DOID:0060423",
    "recommended_name": {
        "id": "DOID:0060423",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060423",
        "name": "chromosome 6q11-q14 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate."
    },
    "synonyms": [
        {
            "id": "MONDO:0013299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013299",
            "name": "chromosome 6q11-q14 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013299",
            "name": "chromosome 6q11-q14 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013299",
            "name": "chromosome 6Q13-q14 deletion syndrome",
            "description": ""
        }
    ]
}