{
    "disease_id": "DOID:0080598", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054701", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054701", 
            "name": "Kleefstra syndrome 2; KLEFS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0054701", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0054701", 
            "name": "KLEFS2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080598", 
        "description": "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080598", 
        "name": "Kleefstra syndrome 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617768", 
            "id": "617768", 
            "database": "MIM"
        }
    ]
}