{
    "disease_id": "DOID:0080509", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010471", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010471", 
            "name": "CDLS5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010471", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010471", 
            "name": "Cornelia De Lange syndrome type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010471", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010471", 
            "name": "Cornelia DE Lange syndrome 5; CDLS5"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080509", 
        "description": "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080509", 
        "name": "Cornelia de Lange syndrome 5"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080509#disease-associations", 
            "id": "0080509", 
            "database": "Alliance of Genome Resources"
        }
    ]
}