{
    "disease_id": "DOID:0112148",
    "recommended_name": {
        "id": "DOID:0112148",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112148",
        "name": "Uruguay faciocardiomusculoskeletal syndrome",
        "description": "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112148",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112148",
            "name": "FCMSU",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "Uruguay Faciocardiomusculoskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "Uruguay Faciocardiomusculoskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "FCMSU",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "Fcms",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010292",
            "name": "faciocardiomusculoskeletal syndrome, Uruguay type",
            "description": ""
        },
        {
            "id": "MIM:300280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300280",
            "name": "Uruguay faciocardiomusculoskeletal syndrome",
            "description": "Uruguay faciocardiomusculoskeletal syndrome"
        }
    ]
}