{
    "disease_id": "DOID:0111385",
    "recommended_name": {
        "id": "DOID:0111385",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111385",
        "name": "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1",
        "description": "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111385",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111385",
            "name": "IBMPFD1",
            "description": ""
        },
        {
            "id": "DOID:0111385",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111385",
            "name": "MSP1",
            "description": ""
        },
        {
            "id": "DOID:0111385",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111385",
            "name": "multisystem proteinopathy 1",
            "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": "lower motor neuron degeneration with Paget-like bone disease",
            "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 type 1",
            "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; 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": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "pagetoid amyotrophic lateral sclerosis",
            "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": "multisystem proteinopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0008178",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008178",
            "name": "muscular dystrophy, limb-girdle, with Paget disease of bone",
            "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"
        }
    ]
}