{
    "disease_id": "DOID:0080093",
    "recommended_name": {
        "id": "DOID:0080093",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080093",
        "name": "adult-onset myofibrillar myopathy 2A",
        "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080093",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080093",
            "name": "alpha-b crystallinopathy",
            "description": ""
        },
        {
            "id": "DOID:0080093",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080093",
            "name": "myofibrillar myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "myofibrillar myopathy 2",
            "description": "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene."
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "CRYAB autosomal dominant distal myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "CRYAB-related myofibrillar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "alpha-B crystallinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "autosomal dominant distal myopathy caused by mutation in CRYAB",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "late-onset distal crystallinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "myofibrillar myopathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "myopathy, myofibrillar, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "MFM2",
            "description": ""
        },
        {
            "id": "MONDO:0012130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012130",
            "name": "myopathy, myofibrillar, 2",
            "description": ""
        },
        {
            "id": "MIM:608810",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608810",
            "name": "Myopathy, myofibrillar, 2A, adult-onset",
            "description": "Myopathy, myofibrillar, 2A, adult-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080093"
    ],
    "unlinked_id_list": []
}