{
    "disease_id": "DOID:0080507", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012555", 
            "name": "Cornelia De Lange syndrome type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012555", 
            "name": "CDLS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012555", 
            "name": "Cornelia de Lange syndrome caused by mutation in SMC3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012555", 
            "name": "Cornelia DE Lange syndrome 3; CDLS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012555", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012555", 
            "name": "SMC3 Cornelia de Lange syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080507", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080507", 
            "name": "CDLS3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080507", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080507", 
            "name": "Cornelia De Lange syndrome 3 with or without midline brain defects"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080507", 
        "description": "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080507", 
        "name": "Cornelia de Lange syndrome 3"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080507#disease-associations", 
            "id": "0080507", 
            "database": "Alliance of Genome Resources"
        }
    ]
}