{
    "disease_id": "DOID:0061229",
    "recommended_name": {
        "id": "DOID:0061229",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061229",
        "name": "Camurati-Engelmann disease 1",
        "description": "An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that has_material_basis_in domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0700385",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700385",
            "name": "Camurati-Engelmann disease type 1",
            "description": "A Camurati-Engelmann disease caused by a variation in the TGFB1 gene."
        },
        {
            "id": "MIM:131300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/131300",
            "name": "Camurati-Engelmann disease",
            "description": "Camurati-Engelmann disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061229"
    ],
    "unlinked_id_list": []
}