{
    "disease_id": "DOID:0070250", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013072", 
            "name": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013072", 
            "name": "EMERY-Dreifuss muscular dystrophy 5, autosomal dominant; EDMD5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013072", 
            "name": "EDMD5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013072", 
            "name": "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013072", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013072", 
            "name": "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070250", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070250", 
            "name": "EDMD5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070250", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070250", 
            "name": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"
        }, 
        {
            "url": "https://www.omim.org/entry/612999", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:612999", 
            "name": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070250", 
        "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070250", 
        "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 5"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/612999", 
            "id": "612999", 
            "database": "MIM"
        }
    ]
}