{
    "disease_id": "DOID:0080346",
    "recommended_name": {
        "id": "DOID:0080346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080346",
        "name": "blepharocheilodontic syndrome 2",
        "description": "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0040503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040503",
            "name": "blepharocheilodontic syndrome 2",
            "description": "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene."
        },
        {
            "id": "MONDO:0040503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040503",
            "name": "CTNND1 blepharo-cheilo-odontic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0040503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040503",
            "name": "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1",
            "description": ""
        },
        {
            "id": "MONDO:0040503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040503",
            "name": "BCDS2",
            "description": ""
        },
        {
            "id": "MIM:617681",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617681",
            "name": "Blepharocheilodontic syndrome 2",
            "description": "Blepharocheilodontic syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080346"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080346",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080346",
            "categories": []
        },
        {
            "id": "MONDO:0040503",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040503",
            "categories": []
        },
        {
            "id": "MIM:617681",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617681",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q686-1",
            "uniprot_ac": "A0A8M9Q686",
            "uniprot_id": "A0A8M9Q686_DANRE",
            "refseq_ac": "XP_021332609",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin delta-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "catenin delta-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctnnd1",
                    "type": "recommended"
                },
                {
                    "name": "ctnnd1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30999-1",
            "uniprot_ac": "P30999",
            "uniprot_id": "CTND1_MOUSE",
            "refseq_ac": "NP_001078917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin delta-1",
                    "type": "recommended"
                },
                {
                    "name": "CAS",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin-associated Src substrate",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-associated Src substrate",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin associated protein), delta 1",
                    "type": "synonym"
                },
                {
                    "name": "catenin delta-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "catenin src",
                    "type": "synonym"
                },
                {
                    "name": "p120 catenin",
                    "type": "synonym"
                },
                {
                    "name": "p120(cas)",
                    "type": "synonym"
                },
                {
                    "name": "p120(ctn)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnnd1",
                    "type": "recommended"
                },
                {
                    "name": "Catns",
                    "type": "synonym"
                },
                {
                    "name": "Ctnnd1",
                    "type": "synonym"
                },
                {
                    "name": "Ctnnd",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0384",
                    "type": "synonym"
                },
                {
                    "name": "P120",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0384",
                    "type": "synonym"
                }
            ],
            "record_id": "P30999-1",
            "evidence": [
                {
                    "id": "0080346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60716-1",
            "uniprot_ac": "O60716",
            "uniprot_id": "CTND1_HUMAN",
            "refseq_ac": "NP_001078927",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin delta-1",
                    "type": "recommended"
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                    "name": "CAS",
                    "type": "synonym"
                },
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                    "name": "Cadherin-associated Src substrate",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-associated Src substrate",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin-associated protein), delta 1",
                    "type": "synonym"
                },
                {
                    "name": "catenin delta-1 isoform 1ABC",
                    "type": "synonym"
                },
                {
                    "name": "p120 catenin",
                    "type": "synonym"
                },
                {
                    "name": "p120(cas)",
                    "type": "synonym"
                },
                {
                    "name": "p120(ctn)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTNND1",
                    "type": "recommended"
                },
                {
                    "name": "BCDS2",
                    "type": "synonym"
                },
                {
                    "name": "CAS",
                    "type": "synonym"
                },
                {
                    "name": "CTNND1",
                    "type": "synonym"
                },
                {
                    "name": "CTNND",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0384",
                    "type": "synonym"
                },
                {
                    "name": "P120CAS",
                    "type": "synonym"
                },
                {
                    "name": "P120CTN",
                    "type": "synonym"
                },
                {
                    "name": "p120(CAS)",
                    "type": "synonym"
                },
                {
                    "name": "p120(CTN)",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "type": "synonym"
                }
            ],
            "record_id": "O60716-1",
            "evidence": [
                {
                    "id": "617681",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617681"
                },
                {
                    "id": "0080346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZVG2-1",
            "uniprot_ac": "A0A8I5ZVG2",
            "uniprot_id": "A0A8I5ZVG2_RAT",
            "refseq_ac": "NP_001420299",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catenin delta 1",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin associated protein), delta 1",
                    "type": "synonym"
                },
                {
                    "name": "catenin delta-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "catenin src",
                    "type": "synonym"
                },
                {
                    "name": "p120 catenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctnnd1",
                    "type": "recommended"
                },
                {
                    "name": "Catns",
                    "type": "synonym"
                },
                {
                    "name": "Ctnnd1",
                    "type": "synonym"
                },
                {
                    "name": "P120",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZVG2-1",
            "evidence": [
                {
                    "id": "0080346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14740-1",
            "uniprot_ac": "P14740",
            "uniprot_id": "DPP4_RAT",
            "refseq_ac": "NP_036921",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dipeptidyl peptidase 4",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.5",
                    "type": "synonym"
                },
                {
                    "name": "Bile canaliculus domain-specific membrane glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "DPP IV",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase IV 60 kDa soluble form",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase IV membrane form",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase IV soluble form",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase IV",
                    "type": "synonym"
                },
                {
                    "name": "GP110 glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "T-cell activation antigen CD26",
                    "type": "synonym"
                },
                {
                    "name": "bile canaliculus domain-specific membrane glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase 4",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpp4",
                    "type": "recommended"
                },
                {
                    "name": "CD26",
                    "type": "synonym"
                },
                {
                    "name": "Cd26",
                    "type": "synonym"
                },
                {
                    "name": "DPPIV",
                    "type": "synonym"
                },
                {
                    "name": "Dpp4",
                    "type": "synonym"
                }
            ],
            "record_id": "P14740-1",
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                {
                    "id": "0080346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7PLI0-1",
            "uniprot_ac": "Q7PLI0",
            "uniprot_id": "Q7PLI0_DROME",
            "refseq_ac": "NP_001036444",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adherens-junction-protein-p120",
                    "type": "synonym"
                },
                {
                    "name": "CG17484-PA",
                    "type": "synonym"
                },
                {
                    "name": "P120 catenin",
                    "type": "synonym"
                },
                {
                    "name": "P120-Catenin",
                    "type": "synonym"
                },
                {
                    "name": "adherens junction protein p120",
                    "type": "synonym"
                },
                {
                    "name": "p120 catenin",
                    "type": "synonym"
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                {
                    "name": "p120catenin",
                    "type": "synonym"
                },
                {
                    "name": "p120ctn-PA",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "p120ctn",
                    "type": "recommended"
                },
                {
                    "name": "CG17484",
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                },
                {
                    "name": "Dmel\\CG17484",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17484",
                    "type": "synonym"
                },
                {
                    "name": "Dp120[ctn]",
                    "type": "synonym"
                },
                {
                    "name": "Dp120ctn",
                    "type": "synonym"
                },
                {
                    "name": "P120-catenin",
                    "type": "synonym"
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                {
                    "name": "P120ctn",
                    "type": "synonym"
                },
                {
                    "name": "P120",
                    "type": "synonym"
                },
                {
                    "name": "dP120ctn",
                    "type": "synonym"
                },
                {
                    "name": "dp120ctn",
                    "type": "synonym"
                },
                {
                    "name": "p120[ctn]",
                    "type": "synonym"
                },
                {
                    "name": "p120ctn",
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                },
                {
                    "name": "p120",
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                }
            ],
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                    "id": "0080346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080346"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080346"
}