{
    "disease_id": "DOID:0061043",
    "recommended_name": {
        "id": "DOID:0061043",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061043",
        "name": "autosomal dominant intellectual developmental disorder 70",
        "description": "An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0859333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859333",
            "name": "intellectual developmental disorder, autosomal dominant 70",
            "description": ""
        },
        {
            "id": "MIM:620157",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620157",
            "name": "Intellectual developmental disorder, autosomal dominant 70",
            "description": "Intellectual developmental disorder, autosomal dominant 70"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061043"
    ],
    "unlinked_id_list": []
}