{
    "disease_id": "DOID:0060917",
    "recommended_name": {
        "id": "DOID:0060917",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060917",
        "name": "facioscapulohumeral muscular dystrophy 3",
        "description": "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression."
    },
    "synonyms": [
        {
            "id": "DOID:0060917",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060917",
            "name": "FSHD3",
            "description": ""
        },
        {
            "id": "DOID:0060917",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060917",
            "name": "facioscapulohumeral muscular dystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0030354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030354",
            "name": "facioscapulohumeral muscular dystrophy 3, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0030354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030354",
            "name": "FSHD3",
            "description": ""
        },
        {
            "id": "MONDO:0030354",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030354",
            "name": "facioscapulohumeral muscular dystrophy 3, digenic",
            "description": ""
        },
        {
            "id": "MIM:619477",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619477",
            "name": "Facioscapulohumeral muscular dystrophy 3, digenic",
            "description": "Facioscapulohumeral muscular dystrophy 3, digenic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060917"
    ],
    "unlinked_id_list": []
}