{
    "disease_id": "DOID:0080346", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0040503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0040503", 
            "name": "BCDS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0040503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0040503", 
            "name": "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0040503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0040503", 
            "name": "BLEPHAROCHEILODONTIC syndrome 2; BCDS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0040503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0040503", 
            "name": "CTNND1 blepharo-cheilo-odontic syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080346", 
        "description": "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080346", 
        "name": "blepharocheilodontic syndrome 2"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080346#disease-associations", 
            "id": "0080346", 
            "database": "Alliance of Genome Resources"
        }
    ]
}