{
    "disease_id": "DOID:0080309",
    "recommended_name": {
        "id": "DOID:0080309",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080309",
        "name": "fatal infantile hypertonic myofibrillar myopathy",
        "description": "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0013472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013472",
            "name": "fatal infantile hypertonic myofibrillar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013472",
            "name": "myofibrillar myopathy type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013472",
            "name": "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related",
            "description": ""
        },
        {
            "id": "MONDO:0013472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013472",
            "name": "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013472",
            "name": "MFM, fatal infantile hypertonic, alpha-B crystallin-related",
            "description": ""
        },
        {
            "id": "MONDO:0013472",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013472",
            "name": "fatal infantile hypertonic myofibrillar myopathy",
            "description": ""
        },
        {
            "id": "MIM:613869",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613869",
            "name": "Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related",
            "description": "Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related"
        }
    ]
}