{
    "disease_id": "DOID:0080908",
    "recommended_name": {
        "id": "DOID:0080908",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080908",
        "name": "Cockayne syndrome B",
        "description": "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080908",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080908",
            "name": "Cockayne syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0080908",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080908",
            "name": "Cockayne syndrome type II",
            "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 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 B",
            "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, type B",
            "description": ""
        },
        {
            "id": "MONDO:0019570",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019570",
            "name": "CSB",
            "description": ""
        },
        {
            "id": "MIM:133540",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133540",
            "name": "Cockayne syndrome B",
            "description": "Cockayne syndrome B"
        }
    ]
}