{
    "disease_id": "DOID:0110083",
    "recommended_name": {
        "id": "DOID:0110083",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110083",
        "name": "arrhythmogenic right ventricular dysplasia 12",
        "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110083",
            "name": "ARVC12",
            "description": ""
        },
        {
            "id": "DOID:0110083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110083",
            "name": "ARVD12",
            "description": ""
        },
        {
            "id": "DOID:0110083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110083",
            "name": "arrhythmogenic right ventricular cardiomyopathy 12",
            "description": ""
        },
        {
            "id": "DOID:0110083",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110083",
            "name": "familial arrhythmogenic right ventricular dysplasia 12",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "arrhythmogenic right ventricular dysplasia 12",
            "description": "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene."
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "ARVC12",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "ARVD12",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "JUP familial isolated arrhythmogenic right ventricular dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "arrhythmogenic right ventricular cardiomyopathy 12",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "arrhythmogenic right ventricular dysplasia 12",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "arrhythmogenic right ventricular dysplasia type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "arrhythmogenic right ventricular dysplasia, familial, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP",
            "description": ""
        },
        {
            "id": "MONDO:0012684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 12",
            "description": ""
        },
        {
            "id": "MIM:611528",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611528",
            "name": "Arrhythmogenic right ventricular dysplasia, familial, 12",
            "description": "Arrhythmogenic right ventricular dysplasia, familial, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110083"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110083",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110083",
            "categories": []
        },
        {
            "id": "MONDO:0012684",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012684",
            "categories": []
        },
        {
            "id": "MIM:611528",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611528",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "A0A8M9PS81-1",
            "uniprot_ac": "A0A8M9PS81",
            "uniprot_id": "A0A8M9PS81_DANRE",
            "refseq_ac": "XP_002665522",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Junction plakoglobin",
                    "type": "synonym"
                },
                {
                    "name": "junction plakoglobin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "jupb",
                    "type": "recommended"
                },
                {
                    "name": "jupb",
                    "type": "synonym"
                }
            ],
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            "uniprot_ac": "Q9PVF7",
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                }
            ],
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                    "name": "Junction plakoglobin a",
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                },
                {
                    "name": "Gamma-catenin",
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                },
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                    "name": "Plakoglobin-1a",
                    "type": "synonym"
                },
                {
                    "name": "Plakoglobin",
                    "type": "synonym"
                },
                {
                    "name": "armadillo protein family",
                    "type": "synonym"
                },
                {
                    "name": "gama-catenin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-catenin",
                    "type": "synonym"
                },
                {
                    "name": "junction plakoglobin a",
                    "type": "synonym"
                },
                {
                    "name": "plakoglobin-1a",
                    "type": "synonym"
                },
                {
                    "name": "plakoglobin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "jupa",
                    "type": "recommended"
                },
                {
                    "name": "cb80",
                    "type": "synonym"
                },
                {
                    "name": "danPG",
                    "type": "synonym"
                },
                {
                    "name": "fb11b06",
                    "type": "synonym"
                },
                {
                    "name": "jupa",
                    "type": "synonym"
                },
                {
                    "name": "jup",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb11b06",
                    "type": "synonym"
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            ],
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                    "id": "0110083",
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            ]
        },
        {
            "uniprot_canonical_ac": "Q02257-1",
            "uniprot_ac": "Q02257",
            "uniprot_id": "PLAK_MOUSE",
            "refseq_ac": "NP_034723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junction plakoglobin",
                    "type": "recommended"
                },
                {
                    "name": "Desmoplakin III",
                    "type": "synonym"
                },
                {
                    "name": "Desmoplakin-3",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin III",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin-3",
                    "type": "synonym"
                },
                {
                    "name": "gamma-catenin",
                    "type": "synonym"
                },
                {
                    "name": "junction plakoglobin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Jup",
                    "type": "recommended"
                },
                {
                    "name": "Ctnng",
                    "type": "synonym"
                },
                {
                    "name": "D930025P04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Jup",
                    "type": "synonym"
                },
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                    "name": "PG",
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            ],
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                    "id": "0110083",
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            ]
        },
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            "uniprot_ac": "P14923",
            "uniprot_id": "PLAK_HUMAN",
            "refseq_ac": "NP_002221",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junction plakoglobin",
                    "type": "recommended"
                },
                {
                    "name": "Catenin gamma",
                    "type": "synonym"
                },
                {
                    "name": "Desmoplakin III",
                    "type": "synonym"
                },
                {
                    "name": "Desmoplakin-3",
                    "type": "synonym"
                },
                {
                    "name": "catenin (cadherin-associated protein), gamma 80kDa",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin III",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin-3",
                    "type": "synonym"
                },
                {
                    "name": "desmosomal protein 3",
                    "type": "synonym"
                },
                {
                    "name": "junction plakoglobin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JUP",
                    "type": "recommended"
                },
                {
                    "name": "CTNNG",
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                },
                {
                    "name": "DP3",
                    "type": "synonym"
                },
                {
                    "name": "DPIII",
                    "type": "synonym"
                },
                {
                    "name": "JUP",
                    "type": "synonym"
                },
                {
                    "name": "PDGB",
                    "type": "synonym"
                },
                {
                    "name": "PG",
                    "type": "synonym"
                },
                {
                    "name": "PKGB",
                    "type": "synonym"
                }
            ],
            "record_id": "P14923-1",
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                    "id": "611528",
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                    "url": "https://www.omim.org/entry/611528"
                },
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                    "id": "0110083",
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            ]
        },
        {
            "uniprot_canonical_ac": "Q6P0K8-1",
            "uniprot_ac": "Q6P0K8",
            "uniprot_id": "PLAK_RAT",
            "refseq_ac": "NP_112309",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junction plakoglobin",
                    "type": "recommended"
                },
                {
                    "name": "gamma-catenin (plakoglobin)",
                    "type": "synonym"
                },
                {
                    "name": "junction plakoglobin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Jup",
                    "type": "recommended"
                },
                {
                    "name": "Jup",
                    "type": "synonym"
                },
                {
                    "name": "Pg",
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                    "id": "0110083",
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        },
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            "uniprot_canonical_ac": "P18824-1",
            "uniprot_ac": "P18824",
            "uniprot_id": "ARM_DROME",
            "refseq_ac": "NP_001259149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Armadillo segment polarity protein",
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                    "name": "-catenin",
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                    "name": "Armadillo(Arm)/beta-catenin",
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                    "name": "Armadillo/beta-catenin",
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                    "name": "Beta-catenin/Arm",
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                    "name": "CG11579-PF",
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                    "name": "alpha-Catenin",
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                    "name": "arm-PF",
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                {
                    "name": "armadillo, isoform F",
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                    "name": "b-catenin",
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                    "name": "beta-Catenin",
                    "type": "synonym"
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                    "name": "beta-catenin/Armadillo",
                    "type": "synonym"
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                {
                    "name": "betaCatenin",
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                    "name": "arm",
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                    "name": "Arm",
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                    "name": "CG11579",
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                {
                    "name": "Dm Arm",
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                    "name": "Dmel\\CG11579",
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                    "name": "Dmel_CG11579",
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                    "name": "EG:86E4.6",
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                    "name": "arm",
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                    "name": "beta-Catenin",
                    "type": "synonym"
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                {
                    "name": "beta-cat-arm",
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                    "name": "beta-catenin",
                    "type": "synonym"
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                    "name": "beta-cat",
                    "type": "synonym"
                },
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                    "name": "betaCatenin",
                    "type": "synonym"
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                {
                    "name": "betacat",
                    "type": "synonym"
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                {
                    "name": "bgr:-Cat",
                    "type": "synonym"
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                {
                    "name": "bgr",
                    "type": "synonym"
                },
                {
                    "name": "dmCTNNB1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Bv",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0192",
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                {
                    "name": "l(1)G0234",
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                {
                    "name": "l(1)G0410",
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                {
                    "name": "l(1)arm",
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                {
                    "name": "t12687 ALR Dm",
                    "type": "synonym"
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                    "id": "0110083",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110083"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110083"
}