{
    "disease_id": "DOID:0080597", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0027407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0027407", 
            "name": "Kleefstra syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0027407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0027407", 
            "name": "chromosome 9q34.3 deletion syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0027407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0027407", 
            "name": "KLEFS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0027407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0027407", 
            "name": "9q-syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0027407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0027407", 
            "name": "obsolete Kleefstra syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0027407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0027407", 
            "name": "Kleefstra syndrome 1; KLEFS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0027407", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0027407", 
            "name": "9q subtelomeric deletion syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080597", 
        "description": "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080597", 
        "name": "Kleefstra syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080597#disease-associations", 
            "id": "0080597", 
            "database": "Alliance of Genome Resources"
        }
    ]
}