{
    "disease_id": "DOID:0080913",
    "recommended_name": {
        "id": "DOID:0080913",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080913",
        "name": "cerebrooculofacioskeletal syndrome 3",
        "description": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0014696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014696",
            "name": "cerebrooculofacioskeletal syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014696",
            "name": "COFS3",
            "description": ""
        },
        {
            "id": "MONDO:0014696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014696",
            "name": "cerebrooculofacioskeletal syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014696",
            "name": "cerebrooculofacioskeletal syndrome type 3",
            "description": ""
        },
        {
            "id": "MIM:616570",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616570",
            "name": "Cerebro-oculo-facio-skeletal syndrome 3",
            "description": "Cerebro-oculo-facio-skeletal syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080913"
    ],
    "unlinked_id_list": []
}