{
    "disease_id": "DOID:0080345",
    "recommended_name": {
        "id": "DOID:0080345",
        "resource": "Disease Ontology",
        "url": "https://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": "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": "blepharocheilodontic syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0054740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "name": "BCDS1",
            "description": ""
        },
        {
            "id": "MIM:119580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/119580",
            "name": "Blepharocheilodontic syndrome 1",
            "description": "Blepharocheilodontic syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080345"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080345",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080345",
            "categories": []
        },
        {
            "id": "MONDO:0054740",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054740",
            "categories": []
        },
        {
            "id": "MIM:119580",
            "database": "MIM",
            "url": "https://www.omim.org/entry/119580",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A7X0-1",
            "uniprot_ac": "A0AB13A7X0",
            "uniprot_id": "A0AB13A7X0_DANRE",
            "refseq_ac": "NP_001352785",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-1",
                    "type": "recommended"
                },
                {
                    "name": "E-cadherin-like",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC793186 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-30c15.12",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-30c15.12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A7X0-1",
            "evidence": [
                {
                    "id": "0080345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q90Z37-1",
            "uniprot_ac": "Q90Z37",
            "uniprot_id": "CADH1_DANRE",
            "refseq_ac": "NP_571895",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-1",
                    "type": "recommended"
                },
                {
                    "name": "E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 1, epithelial",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-1",
                    "type": "synonym"
                },
                {
                    "name": "hab",
                    "type": "synonym"
                },
                {
                    "name": "half baked",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdh1",
                    "type": "recommended"
                },
                {
                    "name": "E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "E-cad",
                    "type": "synonym"
                },
                {
                    "name": "cdh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90Z37-1",
            "evidence": [
                {
                    "id": "0080345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09803-1",
            "uniprot_ac": "P09803",
            "uniprot_id": "CADH1_MOUSE",
            "refseq_ac": "NP_033994",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-1",
                    "type": "recommended"
                },
                {
                    "name": "ARC-1",
                    "type": "synonym"
                },
                {
                    "name": "E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Uvomorulin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cadherin",
                    "type": "synonym"
                },
                {
                    "name": "uvomorulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh1",
                    "type": "recommended"
                },
                {
                    "name": "ARC-1",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1",
                    "type": "synonym"
                },
                {
                    "name": "E-cad",
                    "type": "synonym"
                },
                {
                    "name": "Ecad",
                    "type": "synonym"
                },
                {
                    "name": "L-CAM",
                    "type": "synonym"
                },
                {
                    "name": "UVO",
                    "type": "synonym"
                },
                {
                    "name": "Um",
                    "type": "synonym"
                }
            ],
            "record_id": "P09803-1",
            "evidence": [
                {
                    "id": "0080345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12830-1",
            "uniprot_ac": "P12830",
            "uniprot_id": "CADH1_HUMAN",
            "refseq_ac": "NP_001304113",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-1",
                    "type": "recommended"
                },
                {
                    "name": "CAM 120/80",
                    "type": "synonym"
                },
                {
                    "name": "E-cadherin 1",
                    "type": "synonym"
                },
                {
                    "name": "E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Uvomorulin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 1, E-cadherin (epithelial)",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 1, type 1, E-cadherin (epithelial)",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "calcium-dependent adhesion protein, epithelial",
                    "type": "synonym"
                },
                {
                    "name": "cell-CAM 120/80",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cadherin",
                    "type": "synonym"
                },
                {
                    "name": "uvomorulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDH1",
                    "type": "recommended"
                },
                {
                    "name": "Arc-1",
                    "type": "synonym"
                },
                {
                    "name": "BCDS1",
                    "type": "synonym"
                },
                {
                    "name": "CD324",
                    "type": "synonym"
                },
                {
                    "name": "CDH1",
                    "type": "synonym"
                },
                {
                    "name": "CDHE",
                    "type": "synonym"
                },
                {
                    "name": "ECAD",
                    "type": "synonym"
                },
                {
                    "name": "LCAM",
                    "type": "synonym"
                },
                {
                    "name": "UVO",
                    "type": "synonym"
                }
            ],
            "record_id": "P12830-1",
            "evidence": [
                {
                    "id": "119580",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/119580"
                },
                {
                    "id": "0080345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080345"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0T4-1",
            "uniprot_ac": "Q9R0T4",
            "uniprot_id": "CADH1_RAT",
            "refseq_ac": "NP_112624",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-1",
                    "type": "recommended"
                },
                {
                    "name": "E-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Uvomorulin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cadherin",
                    "type": "synonym"
                },
                {
                    "name": "uvomorulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh1",
                    "type": "recommended"
                },
                {
                    "name": "Cdh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0T4-1",
            "evidence": [
                {
                    "id": "0080345",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080345"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080345"
}