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