{
    "disease_id": "DOID:0080598",
    "recommended_name": {
        "id": "DOID:0080598",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080598",
        "name": "Kleefstra syndrome 2",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0054701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054701",
            "name": "kleefstra syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0054701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054701",
            "name": "Kleefstra syndrome 2; KLEFS2",
            "description": ""
        },
        {
            "id": "MONDO:0054701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054701",
            "name": "KLEFS2",
            "description": ""
        },
        {
            "id": "MIM:617768",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617768",
            "name": "Kleefstra syndrome 2",
            "description": "Kleefstra syndrome 2"
        }
    ]
}