{
    "disease_id": "DOID:0080345",
    "recommended_name": {
        "id": "DOID:0080345",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080345",
        "name": "blepharocheilodontic syndrome 1",
        "description": "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "blepharocheilodontic syndrome 1",
            "description": "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene."
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "BCD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "Lagophthalmia with bilateral cleft 51P and palate",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "blepharocheilodontic syndrome 1; BCDS1",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "CDH1 blepharo-cheilo-odontic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "blepharo-cheilo-odontic syndrome caused by mutation in CDH1",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "elschnig syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "clefting, ectropion, and conical teeth",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "BCDS1",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "ectropion, Inferior, with cleft 51P and/Or palate",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "blepharocheilodontic syndrome",
            "description": ""
        },
        {
            "id": "MIM:119580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/119580",
            "name": "Blepharocheilodontic syndrome 1",
            "description": "Blepharocheilodontic syndrome 1"
        }
    ]
}