{
    "disease_id": "DOID:0060402",
    "recommended_name": {
        "id": "DOID:0060402",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060402",
        "name": "chromosome 17p13.1 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline."
    },
    "synonyms": [
        {
            "id": "MONDO:0013415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013415",
            "name": "chromosome 17p13.1 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013415",
            "name": "chromosome 17p13.1 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013415",
            "name": "17p13.1 deletion syndrome",
            "description": ""
        }
    ]
}