{
    "disease_id": "DOID:0112103",
    "recommended_name": {
        "id": "DOID:0112103",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112103",
        "name": "Sotos syndrome 1",
        "description": "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0112103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112103",
            "name": "SOTOS1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome",
            "description": "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability."
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "NSD1 Sotos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome caused by mutation in NSD1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos' syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "cerebral gigantism",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "cerebral gigantism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "chromosome 5q35 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "SOTOS1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development",
            "description": ""
        },
        {
            "id": "MIM:117550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/117550",
            "name": "Sotos syndrome",
            "description": "Sotos syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112103"
    ],
    "unlinked_id_list": []
}