{
    "disease_id": "DOID:0070249",
    "recommended_name": {
        "id": "DOID:0070249",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070249",
        "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 4",
        "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070249",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070249",
            "name": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant",
            "description": ""
        },
        {
            "id": "DOID:0070249",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070249",
            "name": "EDMD4",
            "description": ""
        },
        {
            "id": "DOID:0070249",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070249",
            "name": "Emery-Dreifuss muscular dystrophy 4 with variable features",
            "description": ""
        },
        {
            "id": "MONDO:0013071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013071",
            "name": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant",
            "description": "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene."
        },
        {
            "id": "MONDO:0013071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013071",
            "name": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013071",
            "name": "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013071",
            "name": "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1",
            "description": ""
        },
        {
            "id": "MONDO:0013071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013071",
            "name": "EDMD4",
            "description": ""
        },
        {
            "id": "MONDO:0013071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013071",
            "name": "EMERY-Dreifuss muscular dystrophy 4, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013071",
            "name": "Emery-Dreifuss muscular dystrophy 4 with variable features",
            "description": ""
        },
        {
            "id": "MIM:612998",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612998",
            "name": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant",
            "description": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070249"
    ],
    "unlinked_id_list": []
}