{
    "disease_id": "DOID:0080910",
    "recommended_name": {
        "id": "DOID:0080910",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080910",
        "name": "cerebrooculofacioskeletal syndrome",
        "description": "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis."
    },
    "synonyms": [
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "cerebrooculofacioskeletal syndrome 1",
            "description": "Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene."
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "COFS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "COFS syndrome caused by mutation in ERCC6",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "COFS1",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "ERCC6 COFS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "cerebrooculofacioskeletal syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008955",
            "name": "cerebrooculofacioskeletal syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:214150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214150",
            "name": "Cerebro-oculo-facio-skeletal syndrome 1",
            "description": "Cerebro-oculo-facio-skeletal syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080911",
            "label": "cerebrooculofacioskeletal syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080912",
            "label": "cerebrooculofacioskeletal syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080913",
            "label": "cerebrooculofacioskeletal syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080914",
            "label": "cerebrooculofacioskeletal syndrome 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080914",
        "DOID:0080912",
        "DOID:0080910",
        "DOID:0080911",
        "DOID:0080913"
    ],
    "unlinked_id_list": []
}
