{
    "disease_id": "DOID:0050663", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024530", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024530", 
            "name": "Bethlem myopathy 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024530", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024530", 
            "name": "muscular dystrophy, benign congenital"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024530", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024530", 
            "name": "BTHLM1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024530", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024530", 
            "name": "myopathy, benign congenital, with contractures"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0024530", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0024530", 
            "name": "Bethlem myopathy 1; BTHLM1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050663", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050663", 
            "name": "benign congenital muscular dystrophy"
        }, 
        {
            "url": "https://www.omim.org/entry/158810", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:158810", 
            "name": "Bethlem myopathy 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050663", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050663", 
        "name": "Bethlem myopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/158810", 
            "id": "158810", 
            "database": "MIM"
        }
    ]
}