{
    "disease_id": "DOID:0080297", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033492", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033492", 
            "name": "COFFIN-SIRIS syndrome 6; CSS6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033492", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033492", 
            "name": "CSS6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080297", 
        "description": "A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that \nhas_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080297", 
        "name": "Coffin-Siris syndrome 6"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617808", 
            "id": "617808", 
            "database": "MIM"
        }
    ]
}
