{
    "disease_id": "DOID:11722",
    "recommended_name": {
        "id": "DOID:11722",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:11722",
        "name": "myotonic dystrophy type 1",
        "description": "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region."
    },
    "synonyms": [
        {
            "id": "DOID:11722",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11722",
            "name": "Dystrophia myotonica",
            "description": ""
        },
        {
            "id": "DOID:11722",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11722",
            "name": "Steinert disease",
            "description": ""
        },
        {
            "id": "DOID:11722",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11722",
            "name": "congenital myotonic dystrophy",
            "description": ""
        },
        {
            "id": "DOID:11722",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:11722",
            "name": "myotonic dystrophy of Steinert",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "myotonic dystrophy type 1",
            "description": "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness."
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "MD1",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "myotonic dystrophy 1; DM1",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "DMPK myotonic dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "DM1",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "myotonic dystrophy of Steinert",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "myotonic dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "Steinert myotonic dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "myotonic dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "Steinert disease",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "Steinert's disease",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "Steinert myotonic dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "myotonic dystrophy caused by mutation in DMPK",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "congenital myotonic dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "Steinert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "dystrophia myotonica",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "dystrophia myotonica type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008056",
            "name": "dystrophia myotonica 1",
            "description": ""
        },
        {
            "id": "MIM:160900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/160900",
            "name": "Dystrophia myotonica 1",
            "description": "Dystrophia myotonica 1"
        }
    ]
}