{
    "disease_id": "DOID:0111193",
    "recommended_name": {
        "id": "DOID:0111193",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111193",
        "name": "facioscapulohumeral muscular dystrophy 2",
        "description": "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression."
    },
    "synonyms": [
        {
            "id": "DOID:0111193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111193",
            "name": "FSHD2",
            "description": ""
        },
        {
            "id": "DOID:0111193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111193",
            "name": "facioscapulohumeral muscular dystrophy 1B",
            "description": ""
        },
        {
            "id": "DOID:0111193",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111193",
            "name": "facioscapulohumeral muscular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "facioscapulohumeral muscular dystrophy 2",
            "description": "Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene."
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "SMCHD1 facioscapulohumeral muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "facioscapulohumeral muscular dystrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "facioscapulohumeral muscular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008031",
            "name": "FSHD2",
            "description": ""
        },
        {
            "id": "MIM:158901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158901",
            "name": "Facioscapulohumeral muscular dystrophy 2, digenic",
            "description": "Facioscapulohumeral muscular dystrophy 2, digenic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111193"
    ],
    "unlinked_id_list": []
}