{
    "disease_id": "DOID:0080309", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013472", 
            "name": "myofibrillar myopathy type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013472", 
            "name": "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013472", 
            "name": "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013472", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013472", 
            "name": "MFM, fatal infantile hypertonic, alpha-B crystallin-related"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080309", 
        "description": "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080309", 
        "name": "fatal infantile hypertonic myofibrillar myopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080309#disease-associations", 
            "id": "0080309", 
            "database": "Alliance of Genome Resources"
        }
    ]
}