{
    "disease_id": "DOID:0080308",
    "recommended_name": {
        "id": "DOID:0080308",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080308",
        "name": "myofibrillar myopathy 8",
        "description": "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myofibrillar myopathy 8",
            "description": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene."
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "PYROXD1 myofibrillar myopathy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myofibrillar myopathy (disease) caused by mutation in PYROXD1",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myofibrillar myopathy 8",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myopathy, myofibrillar, 8",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "myopathy, myofibrillar, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014993",
            "name": "MFM8",
            "description": ""
        },
        {
            "id": "MIM:617258",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617258",
            "name": "Myopathy, myofibrillar, 8",
            "description": "Myopathy, myofibrillar, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080308"
    ],
    "unlinked_id_list": []
}