{
    "disease_id": "DOID:0061045",
    "recommended_name": {
        "id": "DOID:0061045",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061045",
        "name": "autosomal dominant intellectual developmental disorder 72",
        "description": "An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "intellectual developmental disorder, autosomal dominant 72",
            "description": "An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features."
        },
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "MRD72",
            "description": ""
        },
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "SRRM2-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "autosomal dominant intellectual developmental disorder-72",
            "description": ""
        },
        {
            "id": "MONDO:0957397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957397",
            "name": "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MIM:620439",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620439",
            "name": "Intellectual developmental disorder, autosomal dominant 72",
            "description": "Intellectual developmental disorder, autosomal dominant 72"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061045"
    ],
    "unlinked_id_list": []
}