{
    "disease_id": "DOID:0060679",
    "recommended_name": {
        "id": "DOID:0060679",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060679",
        "name": "catecholaminergic polymorphic ventricular tachycardia 5",
        "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 TRDN gene on chromosome 6q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060679",
            "name": "CVPT5",
            "description": ""
        },
        {
            "id": "MONDO:0014191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "name": "catecholaminergic polymorphic ventricular tachycardia 5",
            "description": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene."
        },
        {
            "id": "MONDO:0014191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "name": "TRDN catecholaminergic polymorphic ventricular tachycardia",
            "description": ""
        },
        {
            "id": "MONDO:0014191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "name": "cardiac arrhythmia syndrome, with or without skeletal muscle weakness",
            "description": ""
        },
        {
            "id": "MONDO:0014191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "name": "catecholaminergic polymorphic ventricular tachycardia 5",
            "description": ""
        },
        {
            "id": "MONDO:0014191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "name": "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN",
            "description": ""
        },
        {
            "id": "MONDO:0014191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "name": "catecholaminergic polymorphic ventricular tachycardia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "name": "CPVT5",
            "description": ""
        },
        {
            "id": "MONDO:0014191",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "name": "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness",
            "description": ""
        },
        {
            "id": "MIM:615441",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615441",
            "name": "Cardiac arrhythmia syndrome, with or without skeletal muscle weakness",
            "description": "Cardiac arrhythmia syndrome, with or without skeletal muscle weakness"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060679"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060679",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060679",
            "categories": []
        },
        {
            "id": "MONDO:0014191",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014191",
            "categories": []
        },
        {
            "id": "MIM:615441",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615441",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TCM8-1",
            "uniprot_ac": "A0AB32TCM8",
            "uniprot_id": "A0AB32TCM8_DANRE",
            "refseq_ac": "XP_068071783",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein trdn isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein trdn isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trdn",
                    "type": "recommended"
                },
                {
                    "name": "trdn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TCM8-1",
            "evidence": [
                {
                    "id": "0060679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q9K5-1",
            "uniprot_ac": "E9Q9K5",
            "uniprot_id": "TRDN_MOUSE",
            "refseq_ac": "NP_084002",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triadin",
                    "type": "recommended"
                },
                {
                    "name": "cardiac triadin",
                    "type": "synonym"
                },
                {
                    "name": "triadin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trdn",
                    "type": "recommended"
                },
                {
                    "name": "2310045H21Rik",
                    "type": "synonym"
                },
                {
                    "name": "EG432451",
                    "type": "synonym"
                },
                {
                    "name": "TDN",
                    "type": "synonym"
                },
                {
                    "name": "Trdn",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q9K5-1",
            "evidence": [
                {
                    "id": "0060679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13061-1",
            "uniprot_ac": "Q13061",
            "uniprot_id": "TRDN_HUMAN",
            "refseq_ac": "NP_001242949",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triadin",
                    "type": "recommended"
                },
                {
                    "name": "triadin in skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "triadin isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRDN",
                    "type": "recommended"
                },
                {
                    "name": "CARDAR",
                    "type": "synonym"
                },
                {
                    "name": "CPVT5",
                    "type": "synonym"
                },
                {
                    "name": "TDN",
                    "type": "synonym"
                },
                {
                    "name": "TRDN",
                    "type": "synonym"
                },
                {
                    "name": "TRISK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13061-1",
            "evidence": [
                {
                    "id": "615441",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615441"
                },
                {
                    "id": "0060679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QX75-1",
            "uniprot_ac": "Q9QX75",
            "uniprot_id": "TRDN_RAT",
            "refseq_ac": "NP_067698",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triadin",
                    "type": "recommended"
                },
                {
                    "name": "triadin 1",
                    "type": "synonym"
                },
                {
                    "name": "triadin 32 kDa (TRISK 32)",
                    "type": "synonym"
                },
                {
                    "name": "triadin 49 kDa (TRISK 49)",
                    "type": "synonym"
                },
                {
                    "name": "triadin 95",
                    "type": "synonym"
                },
                {
                    "name": "triadin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trdn",
                    "type": "recommended"
                },
                {
                    "name": "Trdn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QX75-1",
            "evidence": [
                {
                    "id": "0060679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060679"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060679"
}