{
    "disease_id": "DOID:0110082",
    "recommended_name": {
        "id": "DOID:0110082",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110082",
        "name": "arrhythmogenic right ventricular dysplasia 11",
        "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q."
    },
    "synonyms": [
        {
            "id": "DOID:0110082",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110082",
            "name": "ARVC11",
            "description": ""
        },
        {
            "id": "DOID:0110082",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110082",
            "name": "ARVD11",
            "description": ""
        },
        {
            "id": "DOID:0110082",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110082",
            "name": "arrhythmogenic right ventricular cardiomyopathy 11",
            "description": ""
        },
        {
            "id": "DOID:0110082",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110082",
            "name": "familial arrhythmogenic right ventricular dysplasia 11",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia 11",
            "description": "Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene."
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "ARVC11",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "ARVD11",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "DSC2 familial isolated arrhythmogenic right ventricular dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular cardiomyopathy 11",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia 11",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hair",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia, familial, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 11",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair",
            "description": ""
        },
        {
            "id": "MONDO:0012506",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair",
            "description": ""
        },
        {
            "id": "MIM:610476",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610476",
            "name": "Arrhythmogenic right ventricular dysplasia, familial, 11",
            "description": "Arrhythmogenic right ventricular dysplasia, familial, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110082"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110082",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110082",
            "categories": []
        },
        {
            "id": "MONDO:0012506",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012506",
            "categories": []
        },
        {
            "id": "MIM:610476",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610476",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QSQ0-1",
            "uniprot_ac": "F1QSQ0",
            "uniprot_id": "DSC2L_DANRE",
            "refseq_ac": "NP_001274012",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmocollin 2-like protein",
                    "type": "recommended"
                },
                {
                    "name": "desmocollin 2-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dsc2l",
                    "type": "recommended"
                },
                {
                    "name": "dsc2l",
                    "type": "synonym"
                },
                {
                    "name": "dsc2",
                    "type": "synonym"
                },
                {
                    "name": "dsc",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb859",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa94h05",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QSQ0-1",
            "evidence": [
                {
                    "id": "0110082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55292-1",
            "uniprot_ac": "P55292",
            "uniprot_id": "DSC2_MOUSE",
            "refseq_ac": "NP_001304294",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmocollin-2",
                    "type": "recommended"
                },
                {
                    "name": "Epithelial type 2 desmocollin",
                    "type": "synonym"
                },
                {
                    "name": "desmocollin-2 isoform Dsc2a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "epithelial type 2 desmocollin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsc2",
                    "type": "recommended"
                },
                {
                    "name": "Dsc2",
                    "type": "synonym"
                },
                {
                    "name": "Dsc3",
                    "type": "synonym"
                }
            ],
            "record_id": "P55292-1",
            "evidence": [
                {
                    "id": "0110082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02487-1",
            "uniprot_ac": "Q02487",
            "uniprot_id": "DSC2_HUMAN",
            "refseq_ac": "NP_004940",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmocollin-2",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 2",
                    "type": "synonym"
                },
                {
                    "name": "Desmocollin-3",
                    "type": "synonym"
                },
                {
                    "name": "Desmosomal glycoprotein III",
                    "type": "synonym"
                },
                {
                    "name": "Desmosomal glycoprotein II",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 2",
                    "type": "synonym"
                },
                {
                    "name": "desmocollin-2 isoform Dsc2b preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "desmosomal glycoprotein II/III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSC2",
                    "type": "recommended"
                },
                {
                    "name": "ARVD11",
                    "type": "synonym"
                },
                {
                    "name": "CDHF2",
                    "type": "synonym"
                },
                {
                    "name": "DG2",
                    "type": "synonym"
                },
                {
                    "name": "DGII/III",
                    "type": "synonym"
                },
                {
                    "name": "DSC2",
                    "type": "synonym"
                },
                {
                    "name": "DSC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02487-1",
            "evidence": [
                {
                    "id": "610476",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610476"
                },
                {
                    "id": "0110082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJR7-1",
            "uniprot_ac": "D3ZJR7",
            "uniprot_id": "D3ZJR7_RAT",
            "refseq_ac": "NP_001028860",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmocollin 2",
                    "type": "synonym"
                },
                {
                    "name": "desmocollin-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsc2",
                    "type": "recommended"
                },
                {
                    "name": "Dsc2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZJR7-1",
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                {
                    "id": "0110082",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110082"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20793-1",
            "uniprot_ac": "P20793",
            "uniprot_id": "MAK_RAT",
            "refseq_ac": "NP_037268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase MAK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Male germ cell-associated kinase",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase MAK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mak",
                    "type": "recommended"
                },
                {
                    "name": "Mak",
                    "type": "synonym"
                }
            ],
            "record_id": "P20793-1",
            "evidence": [
                {
                    "id": "0110082",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110082"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110082"
}