{
    "disease_id": "DOID:0060768",
    "recommended_name": {
        "id": "DOID:0060768",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060768",
        "name": "Smith-Magenis syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060768",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060768",
            "name": "17p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060768",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060768",
            "name": "chromosome 17p11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith-Magenis syndrome",
            "description": "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay."
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "17p11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "SMITH-Magenis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "SMS",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith Magenis Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith-Magenis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith-Magenis syndrome, Isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "chromosome 17P11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "chromosome 17p11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith-Magenis chromosome region",
            "description": ""
        },
        {
            "id": "MONDO:0008434",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008434",
            "name": "Smith-Magenis syndrome chromosome region",
            "description": ""
        },
        {
            "id": "MIM:182290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/182290",
            "name": "Smith-Magenis syndrome",
            "description": "Smith-Magenis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060768"
    ],
    "unlinked_id_list": []
}