{
    "disease_id": "DOID:0110076",
    "recommended_name": {
        "id": "DOID:0110076",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110076",
        "name": "arrhythmogenic right ventricular dysplasia 8",
        "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24."
    },
    "synonyms": [
        {
            "id": "DOID:0110076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110076",
            "name": "familial arrhythmogenic right ventricular dysplasia 8",
            "description": ""
        },
        {
            "id": "DOID:0110076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110076",
            "name": "ARVC8",
            "description": ""
        },
        {
            "id": "DOID:0110076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110076",
            "name": "ARVD8",
            "description": ""
        },
        {
            "id": "DOID:0110076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110076",
            "name": "arrhythmogenic right ventricular cardiomyopathy 8",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "arrhythmogenic right ventricular dysplasia 8",
            "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene."
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "ARVC8",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "ARVD8",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "DSP arrhythmogenic right ventricular cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "arrhythmogenic right ventricular cardiomyopathy 8",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "arrhythmogenic right ventricular dysplasia 8",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "arrhythmogenic right ventricular dysplasia type 8",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "arrhythmogenic right ventricular dysplasia, familial, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0011831",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 8",
            "description": ""
        },
        {
            "id": "MIM:607450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607450",
            "name": "Arrhythmogenic right ventricular dysplasia, familial, 8",
            "description": "Arrhythmogenic right ventricular dysplasia, familial, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110076"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110076",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110076",
            "categories": []
        },
        {
            "id": "MONDO:0011831",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011831",
            "categories": []
        },
        {
            "id": "MIM:607450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BID5-1",
            "uniprot_ac": "A0A8M2BID5",
            "uniprot_id": "DESPA_DANRE",
            "refseq_ac": "NP_001410685",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoplakin-A",
                    "type": "recommended"
                },
                {
                    "name": "Desmoplakin isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin-A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dspa",
                    "type": "recommended"
                },
                {
                    "name": "dspa",
                    "type": "synonym"
                },
                {
                    "name": "im:6911953",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb570",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc17a08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk73d01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BID5-1",
            "evidence": [
                {
                    "id": "0110076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PQ61-1",
            "uniprot_ac": "A0A8M9PQ61",
            "uniprot_id": "DESPB_DANRE",
            "refseq_ac": "NP_001410356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoplakin-B",
                    "type": "recommended"
                },
                {
                    "name": "Desmoplakin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin-B isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dspb",
                    "type": "recommended"
                },
                {
                    "name": "dspb",
                    "type": "synonym"
                },
                {
                    "name": "fi04e12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb77d08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi04e12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PQ61-1",
            "evidence": [
                {
                    "id": "0110076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q557-1",
            "uniprot_ac": "E9Q557",
            "uniprot_id": "DESP_MOUSE",
            "refseq_ac": "NP_076331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoplakin",
                    "type": "recommended"
                },
                {
                    "name": "DP",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin I/II",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "desmosomal cytoskeletal connector molecule",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsp",
                    "type": "recommended"
                },
                {
                    "name": "2300002E22Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730453H04Rik",
                    "type": "synonym"
                },
                {
                    "name": "DP",
                    "type": "synonym"
                },
                {
                    "name": "Dsp",
                    "type": "synonym"
                },
                {
                    "name": "rul",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q557-1",
            "evidence": [
                {
                    "id": "0110076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15924-1",
            "uniprot_ac": "P15924",
            "uniprot_id": "DESP_HUMAN",
            "refseq_ac": "NP_001008844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoplakin",
                    "type": "recommended"
                },
                {
                    "name": "250/210 kDa paraneoplastic pemphigus antigen",
                    "type": "synonym"
                },
                {
                    "name": "DP",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin isoform II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSP",
                    "type": "recommended"
                },
                {
                    "name": "DCWHKTA",
                    "type": "synonym"
                },
                {
                    "name": "DP",
                    "type": "synonym"
                },
                {
                    "name": "DSP",
                    "type": "synonym"
                }
            ],
            "record_id": "P15924-1",
            "evidence": [
                {
                    "id": "607450",
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                    "url": "https://www.omim.org/entry/607450"
                },
                {
                    "id": "0110076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LMV6-1",
            "uniprot_ac": "F1LMV6",
            "uniprot_id": "DESP_RAT",
            "refseq_ac": "NP_001406527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoplakin",
                    "type": "recommended"
                },
                {
                    "name": "DP",
                    "type": "synonym"
                },
                {
                    "name": "desmoplakin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsp",
                    "type": "recommended"
                },
                {
                    "name": "DP",
                    "type": "synonym"
                },
                {
                    "name": "Dsp",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LMV6-1",
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                {
                    "id": "0110076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110076"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43244-1",
            "uniprot_ac": "P43244",
            "uniprot_id": "MATR3_RAT",
            "refseq_ac": "NP_062022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrin-3",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear scaffold protein p130/MAT3",
                    "type": "synonym"
                },
                {
                    "name": "matrin-3",
                    "type": "synonym"
                },
                {
                    "name": "nuclear scaffold protein P130/MAT3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Matr3",
                    "type": "recommended"
                },
                {
                    "name": "Matr3",
                    "type": "synonym"
                },
                {
                    "name": "P130/MAT3",
                    "type": "synonym"
                },
                {
                    "name": "snhg4",
                    "type": "synonym"
                }
            ],
            "record_id": "P43244-1",
            "evidence": [
                {
                    "id": "0110076",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110076"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110076"
}