{
    "disease_id": "DOID:0050759",
    "recommended_name": {
        "id": "DOID:0050759",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050759",
        "name": "myotonic dystrophy type 2",
        "description": "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one."
    },
    "synonyms": [
        {
            "id": "DOID:0050759",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050759",
            "name": "proximal myotonic myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy type 2",
            "description": "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders."
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "CNBP myotonic dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic myopathy, proximal",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "dystrophia myotonica type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy caused by mutation in CNBP",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "DM2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "proximal myotonic dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "proximal myotonic myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "PROMM",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "dystrophia myotonica 2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "ricker disease",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy 2; DM2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "ricker syndrome",
            "description": ""
        },
        {
            "id": "MIM:602668",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602668",
            "name": "Dystrophia myotonica 2",
            "description": "Dystrophia myotonica 2"
        }
    ]
}