{
    "disease_id": "DOID:0060768", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008434", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008434", 
            "name": "SMITH-Magenis syndrome; SMS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008434", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008434", 
            "name": "chromosome 17P11.2 deletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008434", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008434", 
            "name": "Smith-Magenis chromosome region"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008434", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008434", 
            "name": "17p11.2 microdeletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008434", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008434", 
            "name": "SMS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008434", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008434", 
            "name": "Smith-Magenis syndrome chromosome region"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060768", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060768", 
            "name": "17p11.2 microdeletion syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060768", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060768", 
            "name": "chromosome 17p11.2 deletion syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060768", 
        "description": "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060768", 
        "name": "Smith-Magenis syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/182290", 
            "id": "182290", 
            "database": "MIM"
        }
    ]
}