{
    "disease_id": "DOID:0050881",
    "recommended_name": {
        "id": "DOID:0050881",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050881",
        "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia",
        "description": "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein."
    },
    "synonyms": [
        {
            "id": "DOID:0050881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050881",
            "name": "IBMPFD",
            "description": ""
        },
        {
            "id": "DOID:0050881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050881",
            "name": "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1",
            "description": "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia."
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "IBMPFD1",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1",
            "description": ""
        },
        {
            "id": "MIM:167320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/167320",
            "name": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1",
            "description": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0081121",
            "label": "inclusion body myopathy and brain white matter abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111384",
            "label": "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111385",
            "label": "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111386",
            "label": "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111384",
        "DOID:0050881",
        "DOID:0081121",
        "DOID:0111386",
        "DOID:0111385"
    ],
    "unlinked_id_list": []
}