{
    "disease_id": "DOID:0080948",
    "recommended_name": {
        "id": "DOID:0080948",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080948",
        "name": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome",
        "description": "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0030065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "name": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "name": "ACOGS",
            "description": ""
        },
        {
            "id": "MONDO:0030065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "name": "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0030065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030065",
            "name": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome",
            "description": ""
        },
        {
            "id": "MIM:618929",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618929",
            "name": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome",
            "description": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome"
        }
    ]
}