{
    "disease_id": "DOID:0080538", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0060592", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0060592", 
            "name": "Sweeney-Cox syndrome; SWCOS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0060592", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0060592", 
            "name": "SWCOS"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080538", 
        "description": "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080538", 
        "name": "Sweeney-Cox syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617746", 
            "id": "617746", 
            "database": "MIM"
        }
    ]
}