{
    "disease_id": "DOID:0070252",
    "recommended_name": {
        "id": "DOID:0070252",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070252",
        "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 7",
        "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070252",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070252",
            "name": "EDMD7",
            "description": ""
        },
        {
            "id": "DOID:0070252",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070252",
            "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
            "description": "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene."
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "EDMD7",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43",
            "description": ""
        },
        {
            "id": "MIM:614302",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614302",
            "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
            "description": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant"
        }
    ]
}