{
    "disease_id": "DOID:0080914",
    "recommended_name": {
        "id": "DOID:0080914",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080914",
        "name": "cerebrooculofacioskeletal syndrome 4",
        "description": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "cerebrooculofacioskeletal syndrome 4",
            "description": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene."
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "COFS syndrome caused by mutation in ERCC1",
            "description": ""
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "COFS4",
            "description": ""
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "ERCC1 COFS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "cerebrooculofacioskeletal syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012554",
            "name": "cerebrooculofacioskeletal syndrome type 4",
            "description": ""
        },
        {
            "id": "MIM:610758",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610758",
            "name": "Cerebro-oculo-facio-skeletal syndrome 4",
            "description": "Cerebro-oculo-facio-skeletal syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080914"
    ],
    "unlinked_id_list": []
}