{
    "disease_id": "DOID:0081218",
    "recommended_name": {
        "id": "DOID:0081218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081218",
        "name": "autosomal recessive intellectual developmental disorder 74",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported."
    },
    "synonyms": [
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "intellectual developmental disorder, autosomal recessive 74",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene."
        },
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "APC2 Sotos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "Sotos syndrome caused by mutation in APC2",
            "description": ""
        },
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "Sotos syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "intellectual developmental disorder, autosomal recessive 74",
            "description": ""
        },
        {
            "id": "MIM:617169",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617169",
            "name": "Intellectual developmental disorder, autosomal recessive 74",
            "description": "Intellectual developmental disorder, autosomal recessive 74"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081218"
    ],
    "unlinked_id_list": []
}