{
    "disease_id": "DOID:0060675",
    "recommended_name": {
        "id": "DOID:0060675",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060675",
        "name": "catecholaminergic polymorphic ventricular tachycardia 1",
        "description": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43."
    },
    "synonyms": [
        {
            "id": "DOID:0060675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060675",
            "name": "CVPT1",
            "description": ""
        },
        {
            "id": "DOID:0060675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060675",
            "name": "arrhythmogenic right ventricular dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "catecholaminergic polymorphic ventricular tachycardia 1",
            "description": "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene."
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "ARVC2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "ARVD2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "RYR2 familial isolated arrhythmogenic right ventricular dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular cardiomyopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular dysplasia, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "catecholaminergic polymorphic ventricular tachycardia 1",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "catecholaminergic polymorphic ventricular tachycardia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "familial arrhythmogenic right ventricular dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "ventricular tachycardia, catecholaminergic polymorphic, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "CPVT1",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "catecholaminergic polymorphic ventricular tachycardia 1",
            "description": "Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene."
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "ARVC2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "ARVD2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "RYR2 familial isolated arrhythmogenic right ventricular dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular cardiomyopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular dysplasia, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "catecholaminergic polymorphic ventricular tachycardia 1",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "catecholaminergic polymorphic ventricular tachycardia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "familial arrhythmogenic right ventricular dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "ventricular tachycardia, catecholaminergic polymorphic, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "CPVT1",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "arrhythmogenic right ventricular dysplasia, familial, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "name": "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MIM:604772",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604772",
            "name": "Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy",
            "description": "Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060675"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060675",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060675",
            "categories": []
        },
        {
            "id": "MONDO:0011484",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011484",
            "categories": []
        },
        {
            "id": "MIM:604772",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604772",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T6W5-1",
            "uniprot_ac": "A0AB32T6W5",
            "uniprot_id": "A0AB32T6W5_DANRE",
            "refseq_ac": "NP_001429607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 2b protein",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "ryr2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ryr2b",
                    "type": "recommended"
                },
                {
                    "name": "ryr2b",
                    "type": "synonym"
                },
                {
                    "name": "ryrbb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T6W5-1",
            "evidence": [
                {
                    "id": "0060675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q401-1",
            "uniprot_ac": "E9Q401",
            "uniprot_id": "RYR2_MOUSE",
            "refseq_ac": "NP_076357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac muscle ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "RYR-2",
                    "type": "synonym"
                },
                {
                    "name": "RyR2",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "cardiac muscle ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "cardiac muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor type 2",
                    "type": "synonym"
                },
                {
                    "name": "type 2 ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ryr2",
                    "type": "recommended"
                },
                {
                    "name": "9330127I20Rik",
                    "type": "synonym"
                },
                {
                    "name": "RYR-2",
                    "type": "synonym"
                },
                {
                    "name": "Ryr2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q401-1",
            "evidence": [
                {
                    "id": "0060675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92736-1",
            "uniprot_ac": "Q92736",
            "uniprot_id": "RYR2_HUMAN",
            "refseq_ac": "NP_001026",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac muscle ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "RYR-2",
                    "type": "synonym"
                },
                {
                    "name": "RyR2",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "cardiac muscle ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "cardiac-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "hRYR-2",
                    "type": "synonym"
                },
                {
                    "name": "islet-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "kidney-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 2 (cardiac)",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "type 2 ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RYR2",
                    "type": "recommended"
                },
                {
                    "name": "ARVC2",
                    "type": "synonym"
                },
                {
                    "name": "ARVD2",
                    "type": "synonym"
                },
                {
                    "name": "RYR-2",
                    "type": "synonym"
                },
                {
                    "name": "RYR2",
                    "type": "synonym"
                },
                {
                    "name": "RyR",
                    "type": "synonym"
                },
                {
                    "name": "VACRDS",
                    "type": "synonym"
                },
                {
                    "name": "VTSIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92736-1",
            "evidence": [
                {
                    "id": "604772",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604772"
                },
                {
                    "id": "0060675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0LPN4-1",
            "uniprot_ac": "B0LPN4",
            "uniprot_id": "RYR2_RAT",
            "refseq_ac": "NP_001177972",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac muscle ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "RYR-2",
                    "type": "synonym"
                },
                {
                    "name": "RyR2",
                    "type": "synonym"
                },
                {
                    "name": "Type 2 ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "cardiac muscle ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "cardiac muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "cardiac-type ryaodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 2, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "type 2 ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ryr2",
                    "type": "recommended"
                },
                {
                    "name": "RYR-2",
                    "type": "synonym"
                },
                {
                    "name": "RyR",
                    "type": "synonym"
                },
                {
                    "name": "Ryr2",
                    "type": "synonym"
                }
            ],
            "record_id": "B0LPN4-1",
            "evidence": [
                {
                    "id": "0060675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24498-2",
            "uniprot_ac": "Q24498",
            "uniprot_id": "RYR_DROME",
            "refseq_ac": "NP_476991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor",
                    "type": "recommended"
                },
                {
                    "name": "CG10844-PA",
                    "type": "synonym"
                },
                {
                    "name": "RyR-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ryanodine receptor 44F",
                    "type": "synonym"
                },
                {
                    "name": "RyanodineR",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 44F",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RyR",
                    "type": "recommended"
                },
                {
                    "name": "CG10844",
                    "type": "synonym"
                },
                {
                    "name": "D-RyR",
                    "type": "synonym"
                },
                {
                    "name": "DRR",
                    "type": "synonym"
                },
                {
                    "name": "DRY",
                    "type": "synonym"
                },
                {
                    "name": "DmRyR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10844",
                    "type": "synonym"
                },
                {
                    "name": "RYR",
                    "type": "synonym"
                },
                {
                    "name": "RyRs",
                    "type": "synonym"
                },
                {
                    "name": "RyR",
                    "type": "synonym"
                },
                {
                    "name": "Rya-44F",
                    "type": "synonym"
                },
                {
                    "name": "Rya-R44F",
                    "type": "synonym"
                },
                {
                    "name": "Rya-r44F",
                    "type": "synonym"
                },
                {
                    "name": "Rya-r4",
                    "type": "synonym"
                },
                {
                    "name": "Rya-r76CD",
                    "type": "synonym"
                },
                {
                    "name": "Ryr",
                    "type": "synonym"
                },
                {
                    "name": "dRyR",
                    "type": "synonym"
                },
                {
                    "name": "dRyr",
                    "type": "synonym"
                },
                {
                    "name": "dry",
                    "type": "synonym"
                },
                {
                    "name": "dya",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k00424",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04913",
                    "type": "synonym"
                },
                {
                    "name": "rya-r44F",
                    "type": "synonym"
                },
                {
                    "name": "ryr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24498-2",
            "evidence": [
                {
                    "id": "0060675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060675"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060675"
}