{
    "disease_id": "DOID:0061047",
    "recommended_name": {
        "id": "DOID:0061047",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061047",
        "name": "autosomal dominant intellectual developmental disorder 74",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0958203",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958203",
            "name": "intellectual developmental disorder, autosomal dominant 74",
            "description": ""
        },
        {
            "id": "MIM:620688",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620688",
            "name": "Intellectual developmental disorder, autosomal dominant 74",
            "description": "Intellectual developmental disorder, autosomal dominant 74"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061047"
    ],
    "unlinked_id_list": []
}