{
    "disease_id": "DOID:0050663",
    "recommended_name": {
        "id": "DOID:0050663",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050663",
        "name": "Bethlem myopathy",
        "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050663",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050663",
            "name": "benign congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "Bethlem myopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "muscular dystrophy, benign congenital",
            "description": ""
        },
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "BTHLM1",
            "description": ""
        },
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "myopathy, benign congenital, with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "Bethlem myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0024530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024530",
            "name": "Bethlem myopathy 1; BTHLM1",
            "description": ""
        },
        {
            "id": "MIM:158810",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158810",
            "name": "Bethlem myopathy 1",
            "description": "Bethlem myopathy 1"
        }
    ]
}