{
    "disease_id": "DOID:0061230",
    "recommended_name": {
        "id": "DOID:0061230",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061230",
        "name": "Camurati-Engelmann disease 2",
        "description": "An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "Camurati-Engelmann disease type 2",
            "description": "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder."
        },
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "Camurati-Engelmann disease, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "CAEND2",
            "description": ""
        },
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "Camurati Engelmann disease, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011690",
            "name": "progressive diaphyseal dysplasia with striations of the bones",
            "description": ""
        },
        {
            "id": "MIM:606631",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606631",
            "name": "Camurati-Engelmann disease 2",
            "description": "Camurati-Engelmann disease 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061230"
    ],
    "unlinked_id_list": []
}