{
    "disease_id": "DOID:0080308", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014993", 
            "name": "myopathy, myofibrillar, 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014993", 
            "name": "myofibrillar myopathy (disease) caused by mutation in PYROXD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014993", 
            "name": "myopathy, myofibrillar, type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014993", 
            "name": "PYROXD1 myofibrillar myopathy (disease)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014993", 
            "name": "myopathy, myofibrillar, 8; MFM8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014993", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014993", 
            "name": "MFM8"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080308", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080308", 
        "name": "myofibrillar myopathy 8"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080308#disease-associations", 
            "id": "0080308", 
            "database": "Alliance of Genome Resources"
        }
    ]
}