{
    "disease_id": "DOID:0070247",
    "recommended_name": {
        "id": "DOID:0070247",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070247",
        "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2",
        "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070247",
            "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant",
            "description": ""
        },
        {
            "id": "DOID:0070247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070247",
            "name": "EDMD2",
            "description": ""
        },
        {
            "id": "DOID:0070247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070247",
            "name": "EMD2",
            "description": ""
        },
        {
            "id": "DOID:0070247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070247",
            "name": "Hauptmann-Thannhauser muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0070247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070247",
            "name": "scapuloilioperoneal atrophy with cardiopathy",
            "description": ""
        },
        {
            "id": "DOID:0070247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070247",
            "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "DOID:0070247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070247",
            "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant",
            "description": ""
        },
        {
            "id": "DOID:0070247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070247",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
            "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene."
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "EDMD2",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "Hauptmann-Thannhauser muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "LGMD1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "LMNA autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "muscular dystrophy, limb-girdle type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "proximal muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "EMD2",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "limb-girdle muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "muscular dystrophy, limb-girdle, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "muscular dystrophy, proximal, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "scapuloilioperoneal atrophy with cardiopathy",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
            "description": "Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene."
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "EDMD2",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "Hauptmann-Thannhauser muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "LGMD1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "LMNA autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "muscular dystrophy, limb-girdle type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "proximal muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "EMD2",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "benign scapuloperoneal muscular dystrophy with cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "limb-girdle muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "muscular dystrophy, limb-girdle, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "muscular dystrophy, proximal, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0021569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021569",
            "name": "scapuloilioperoneal atrophy with cardiopathy",
            "description": ""
        },
        {
            "id": "MIM:181350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/181350",
            "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant",
            "description": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070247"
    ],
    "unlinked_id_list": []
}