{
    "disease_id": "DOID:0080907",
    "recommended_name": {
        "id": "DOID:0080907",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080907",
        "name": "Cockayne syndrome A",
        "description": "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080907",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080907",
            "name": "Cockayne syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0080907",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080907",
            "name": "Cockayne syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0008998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008998",
            "name": "Cockayne syndrome type 3",
            "description": "Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood."
        },
        {
            "id": "MONDO:0008998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008998",
            "name": "Cockayne syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008998",
            "name": "Cockayne syndrome type C",
            "description": ""
        },
        {
            "id": "MONDO:0008998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008998",
            "name": "Cockayne syndrome, type III",
            "description": ""
        },
        {
            "id": "MONDO:0008998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008998",
            "name": "Cockayne syndrome type III",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome type 2",
            "description": "Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6."
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome, type B",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome type II",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome B",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "CSB",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "Cockayne syndrome type B",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type 1",
            "description": "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8."
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome classical",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type a",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome, type A",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome classic form",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome A",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "CSA",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "ERCC8 Cockayne syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome type A",
            "description": ""
        },
        {
            "id": "MONDO:0019569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019569",
            "name": "Cockayne syndrome caused by mutation in ERCC8",
            "description": ""
        },
        {
            "id": "MIM:216400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216400",
            "name": "Cockayne syndrome A",
            "description": "Cockayne syndrome A"
        },
        {
            "id": "MIM:216400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216400",
            "name": "Cockayne syndrome A",
            "description": "Cockayne syndrome A"
        },
        {
            "id": "MIM:216400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216400",
            "name": "Cockayne syndrome A",
            "description": "Cockayne syndrome A"
        }
    ]
}