{
    "disease_id": "DOID:0060676",
    "recommended_name": {
        "id": "DOID:0060676",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060676",
        "name": "catecholaminergic polymorphic ventricular tachycardia 2",
        "description": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060676",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060676",
            "name": "CVPT2",
            "description": ""
        },
        {
            "id": "MONDO:0012762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "name": "catecholaminergic polymorphic ventricular tachycardia 2",
            "description": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene."
        },
        {
            "id": "MONDO:0012762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "name": "CASQ2 catecholaminergic polymorphic ventricular tachycardia",
            "description": ""
        },
        {
            "id": "MONDO:0012762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "name": "catecholaminergic polymorphic ventricular tachycardia 2",
            "description": ""
        },
        {
            "id": "MONDO:0012762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "name": "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2",
            "description": ""
        },
        {
            "id": "MONDO:0012762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "name": "catecholaminergic polymorphic ventricular tachycardia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "name": "ventricular tachycardia, catecholaminergic polymorphic, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "name": "CPVT2",
            "description": ""
        },
        {
            "id": "MONDO:0012762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "name": "ventricular tachycardia, catecholaminergic polymorphic, 2",
            "description": ""
        },
        {
            "id": "MIM:611938",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611938",
            "name": "Ventricular tachycardia, catecholaminergic polymorphic, 2",
            "description": "Ventricular tachycardia, catecholaminergic polymorphic, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060676"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060676",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060676",
            "categories": []
        },
        {
            "id": "MONDO:0012762",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012762",
            "categories": []
        },
        {
            "id": "MIM:611938",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611938",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O09161-1",
            "uniprot_ac": "O09161",
            "uniprot_id": "CASQ2_MOUSE",
            "refseq_ac": "NP_033944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calsequestrin-2",
                    "type": "recommended"
                },
                {
                    "name": "Calsequestrin, cardiac muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "calsequestrin-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cardiac calsequestrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Casq2",
                    "type": "recommended"
                },
                {
                    "name": "Casq2",
                    "type": "synonym"
                },
                {
                    "name": "Csq2",
                    "type": "synonym"
                },
                {
                    "name": "ESTM52",
                    "type": "synonym"
                },
                {
                    "name": "cCSQ",
                    "type": "synonym"
                }
            ],
            "record_id": "O09161-1",
            "evidence": [
                {
                    "id": "0060676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14958-1",
            "uniprot_ac": "O14958",
            "uniprot_id": "CASQ2_HUMAN",
            "refseq_ac": "NP_001223",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calsequestrin-2",
                    "type": "recommended"
                },
                {
                    "name": "Calsequestrin, cardiac muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "calsequestrin 2 (cardiac muscle)",
                    "type": "synonym"
                },
                {
                    "name": "calsequestrin 2, fast-twitch, cardiac muscle",
                    "type": "synonym"
                },
                {
                    "name": "calsequestrin-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CASQ2",
                    "type": "recommended"
                },
                {
                    "name": "CASQ2",
                    "type": "synonym"
                },
                {
                    "name": "PDIB2",
                    "type": "synonym"
                }
            ],
            "record_id": "O14958-1",
            "evidence": [
                {
                    "id": "611938",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611938"
                },
                {
                    "id": "0060676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GGT8-1",
            "uniprot_ac": "A0A8I6GGT8",
            "uniprot_id": "A0A8I6GGT8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin 8-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cts8l1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GGT8-1",
            "evidence": [
                {
                    "id": "0060676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060676"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51868-1",
            "uniprot_ac": "P51868",
            "uniprot_id": "CASQ2_RAT",
            "refseq_ac": "NP_058827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calsequestrin-2",
                    "type": "recommended"
                },
                {
                    "name": "Calsequestrin, cardiac muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "SR calcium binding protein",
                    "type": "synonym"
                },
                {
                    "name": "calsequestrin 2 (cardiac muscle)",
                    "type": "synonym"
                },
                {
                    "name": "calsequestrin-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Casq2",
                    "type": "recommended"
                },
                {
                    "name": "Casq2",
                    "type": "synonym"
                },
                {
                    "name": "cardCSQ",
                    "type": "synonym"
                }
            ],
            "record_id": "P51868-1",
            "evidence": [
                {
                    "id": "0060676",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060676"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060676"
}