{
    "disease_id": "DOID:0060677",
    "recommended_name": {
        "id": "DOID:0060677",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060677",
        "name": "catecholaminergic polymorphic ventricular tachycardia 3",
        "description": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14."
    },
    "synonyms": [
        {
            "id": "DOID:0060677",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060677",
            "name": "CVPT3",
            "description": ""
        },
        {
            "id": "MONDO:0013529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013529",
            "name": "catecholaminergic polymorphic ventricular tachycardia 3",
            "description": "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene."
        },
        {
            "id": "MONDO:0013529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013529",
            "name": "TECRL catecholaminergic polymorphic ventricular tachycardia",
            "description": ""
        },
        {
            "id": "MONDO:0013529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013529",
            "name": "catecholaminergic polymorphic ventricular tachycardia 3",
            "description": ""
        },
        {
            "id": "MONDO:0013529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013529",
            "name": "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL",
            "description": ""
        },
        {
            "id": "MONDO:0013529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013529",
            "name": "catecholaminergic polymorphic ventricular tachycardia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013529",
            "name": "CPVT3",
            "description": ""
        },
        {
            "id": "MONDO:0013529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013529",
            "name": "ventricular tachycardia, catecholaminergic polymorphic, 3",
            "description": ""
        },
        {
            "id": "MIM:614021",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614021",
            "name": "Ventricular tachycardia, catecholaminergic polymorphic, 3",
            "description": "Ventricular tachycardia, catecholaminergic polymorphic, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060677"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060677",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060677",
            "categories": []
        },
        {
            "id": "MONDO:0013529",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013529",
            "categories": []
        },
        {
            "id": "MIM:614021",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614021",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BFZ1-1",
            "uniprot_ac": "Q8BFZ1",
            "uniprot_id": "TECRL_MOUSE",
            "refseq_ac": "NP_722496",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trans-2,3-enoyl-CoA reductase-like",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 5-alpha-reductase 2-like 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "steroid 5 alpha-reductase 2-like 2",
                    "type": "synonym"
                },
                {
                    "name": "steroid 5-alpha-reductase 2-like 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "synaptic glycoprotein SC2-like",
                    "type": "synonym"
                },
                {
                    "name": "trans-2,3-enoyl-CoA reductase-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecrl",
                    "type": "recommended"
                },
                {
                    "name": "D330017N19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Srd5a2l2",
                    "type": "synonym"
                },
                {
                    "name": "Tecrl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BFZ1-1",
            "evidence": [
                {
                    "id": "0060677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5HYJ1-1",
            "uniprot_ac": "Q5HYJ1",
            "uniprot_id": "TECRL_HUMAN",
            "refseq_ac": "NP_001010874",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trans-2,3-enoyl-CoA reductase-like",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 5-alpha-reductase 2-like 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein, synaptic 2-like",
                    "type": "synonym"
                },
                {
                    "name": "steroid 5 alpha-reductase 2-like 2",
                    "type": "synonym"
                },
                {
                    "name": "steroid 5-alpha-reductase 2-like 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "trans-2,3-enoyl-CoA reductase-like isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TECRL",
                    "type": "recommended"
                },
                {
                    "name": "CPVT3",
                    "type": "synonym"
                },
                {
                    "name": "GPSN2L",
                    "type": "synonym"
                },
                {
                    "name": "SRD5A2L2",
                    "type": "synonym"
                },
                {
                    "name": "TECRL",
                    "type": "synonym"
                },
                {
                    "name": "TERL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5HYJ1-1",
            "evidence": [
                {
                    "id": "614021",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614021"
                },
                {
                    "id": "0060677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99190-1",
            "uniprot_ac": "Q99190",
            "uniprot_id": "TECR_YEAST",
            "refseq_ac": "NP_010269",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very-long-chain enoyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.93",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl reductase TSC13",
                    "type": "synonym"
                },
                {
                    "name": "Temperature-sensitive CSG2 suppressor protein 13",
                    "type": "synonym"
                },
                {
                    "name": "Trans-2-enoyl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "trans-2-enoyl-CoA reductase (NADPH) TSC13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSC13",
                    "type": "recommended"
                },
                {
                    "name": "D2865",
                    "type": "synonym"
                },
                {
                    "name": "TSC13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99190-1",
            "evidence": [
                {
                    "id": "0060677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A1Y9-1",
            "uniprot_ac": "D4A1Y9",
            "uniprot_id": "D4A1Y9_RAT",
            "refseq_ac": "NP_001102330",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trans-2,3-enoyl-CoA reductase-like",
                    "type": "recommended"
                },
                {
                    "name": "Steroid 5-alpha-reductase 2-like 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "steroid 5 alpha-reductase 2-like 2",
                    "type": "synonym"
                },
                {
                    "name": "trans-2,3-enoyl-CoA reductase-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecrl",
                    "type": "recommended"
                },
                {
                    "name": "Srd5a2l2",
                    "type": "synonym"
                },
                {
                    "name": "Tecrl",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A1Y9-1",
            "evidence": [
                {
                    "id": "0060677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZL3-1",
            "uniprot_ac": "Q9VZL3",
            "uniprot_id": "Q9VZL3_DROME",
            "refseq_ac": "NP_647836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "very-long-chain enoyl-CoA reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.93",
                    "type": "synonym"
                },
                {
                    "name": "CG10849-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sc2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sc2",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-63E",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)63Eb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecr",
                    "type": "recommended"
                },
                {
                    "name": "CG10849",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10849",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10849",
                    "type": "synonym"
                },
                {
                    "name": "SC2",
                    "type": "synonym"
                },
                {
                    "name": "Sc2",
                    "type": "synonym"
                },
                {
                    "name": "Ter[CG10849]",
                    "type": "synonym"
                },
                {
                    "name": "dSc2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05634",
                    "type": "synonym"
                },
                {
                    "name": "l(3)63Eb",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZL3-1",
            "evidence": [
                {
                    "id": "0060677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060677"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060677"
}