{
    "disease_id": "DOID:0110077",
    "recommended_name": {
        "id": "DOID:0110077",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110077",
        "name": "arrhythmogenic right ventricular dysplasia 9",
        "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110077",
            "name": "familial arrhythmogenic right ventricular dysplasia 9",
            "description": ""
        },
        {
            "id": "DOID:0110077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110077",
            "name": "ARVC9",
            "description": ""
        },
        {
            "id": "DOID:0110077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110077",
            "name": "ARVD9",
            "description": ""
        },
        {
            "id": "DOID:0110077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110077",
            "name": "arrhythmogenic right ventricular cardiomyopathy 9",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "arrhythmogenic right ventricular dysplasia 9",
            "description": "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene."
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "ARVC9",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "ARVD9",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "PKP2 familial isolated arrhythmogenic right ventricular dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "arrhythmogenic right ventricular cardiomyopathy 9",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "arrhythmogenic right ventricular dysplasia 9",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "arrhythmogenic right ventricular dysplasia type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "arrhythmogenic right ventricular dysplasia, familial, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2",
            "description": ""
        },
        {
            "id": "MONDO:0012180",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 9",
            "description": ""
        },
        {
            "id": "MIM:609040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609040",
            "name": "Arrhythmogenic right ventricular dysplasia, familial, 9",
            "description": "Arrhythmogenic right ventricular dysplasia, familial, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110077"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110077",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110077",
            "categories": []
        },
        {
            "id": "MONDO:0012180",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012180",
            "categories": []
        },
        {
            "id": "MIM:609040",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609040",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0BF33-1",
            "uniprot_ac": "B0BF33",
            "uniprot_id": "PKP2_DANRE",
            "refseq_ac": "NP_001106904",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plakophilin-2",
                    "type": "recommended"
                },
                {
                    "name": "plakophilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pkp2",
                    "type": "recommended"
                },
                {
                    "name": "pkp2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-11c20.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B0BF33-1",
            "evidence": [
                {
                    "id": "0110077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQ73-1",
            "uniprot_ac": "Q9CQ73",
            "uniprot_id": "PKP2_MOUSE",
            "refseq_ac": "NP_080439",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plakophilin-2",
                    "type": "recommended"
                },
                {
                    "name": "plakophilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pkp2",
                    "type": "recommended"
                },
                {
                    "name": "1200008D14Rik",
                    "type": "synonym"
                },
                {
                    "name": "1200012P04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pkp2l",
                    "type": "synonym"
                },
                {
                    "name": "Pkp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQ73-1",
            "evidence": [
                {
                    "id": "0110077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99959-1",
            "uniprot_ac": "Q99959",
            "uniprot_id": "PKP2_HUMAN",
            "refseq_ac": "NP_001005242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plakophilin-2",
                    "type": "recommended"
                },
                {
                    "name": "plakophilin-2 isoform 2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PKP2",
                    "type": "recommended"
                },
                {
                    "name": "ARVD9",
                    "type": "synonym"
                },
                {
                    "name": "PKP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99959-1",
            "evidence": [
                {
                    "id": "609040",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609040"
                },
                {
                    "id": "0110077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M7L9-1",
            "uniprot_ac": "F1M7L9",
            "uniprot_id": "PKP2_RAT",
            "refseq_ac": "NP_001093969",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plakophilin-2",
                    "type": "recommended"
                },
                {
                    "name": "plakophilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pkp2",
                    "type": "recommended"
                },
                {
                    "name": "Pkp2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M7L9-1",
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                    "id": "0110077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110077"
                }
            ]
        },
        {
            "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"
                },
                {
                    "name": "p120catenin",
                    "type": "synonym"
                },
                {
                    "name": "p120ctn-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "p120ctn",
                    "type": "recommended"
                },
                {
                    "name": "CG17484",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17484",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17484",
                    "type": "synonym"
                },
                {
                    "name": "Dp120[ctn]",
                    "type": "synonym"
                },
                {
                    "name": "Dp120ctn",
                    "type": "synonym"
                },
                {
                    "name": "P120-catenin",
                    "type": "synonym"
                },
                {
                    "name": "P120ctn",
                    "type": "synonym"
                },
                {
                    "name": "P120",
                    "type": "synonym"
                },
                {
                    "name": "dP120ctn",
                    "type": "synonym"
                },
                {
                    "name": "dp120ctn",
                    "type": "synonym"
                },
                {
                    "name": "p120[ctn]",
                    "type": "synonym"
                },
                {
                    "name": "p120ctn",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7PLI0-1",
            "evidence": [
                {
                    "id": "0110077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110077"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110077"
}