{
    "disease_id": "DOID:0110218",
    "recommended_name": {
        "id": "DOID:0110218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110218",
        "name": "Brugada syndrome 1",
        "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110218",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110218",
            "name": "BRGDA1",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "Brugada syndrome 1",
            "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene."
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "BRGDA1",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "Brugada syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "Brugada syndrome caused by mutation in SCN5A",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "Brugada syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "name": "SCN5A Brugada syndrome",
            "description": ""
        },
        {
            "id": "MIM:601144",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601144",
            "name": "Brugada syndrome 1",
            "description": "Brugada syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110218"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110218",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110218",
            "categories": []
        },
        {
            "id": "MONDO:0011001",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011001",
            "categories": []
        },
        {
            "id": "MIM:601144",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601144",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B7Z1-1",
            "uniprot_ac": "A0A8M3B7Z1",
            "uniprot_id": "A0A8M3B7Z1_DANRE",
            "refseq_ac": "XP_009297176",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel, voltage gated, type XII, alpha a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scn12aa",
                    "type": "recommended"
                },
                {
                    "name": "scn12aa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B7Z1-1",
            "evidence": [
                {
                    "id": "0110218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJV9-1",
            "uniprot_ac": "Q9JJV9",
            "uniprot_id": "SCN5A_MOUSE",
            "refseq_ac": "NP_001240789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 5 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type V subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "mH1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type V subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type V, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn5a",
                    "type": "recommended"
                },
                {
                    "name": "Nav1.5c",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "Scn5a",
                    "type": "synonym"
                },
                {
                    "name": "SkM1",
                    "type": "synonym"
                },
                {
                    "name": "SkM2",
                    "type": "synonym"
                },
                {
                    "name": "mH1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJV9-1",
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                    "id": "0110218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14524-1",
            "uniprot_ac": "Q14524",
            "uniprot_id": "SCN5A_HUMAN",
            "refseq_ac": "NP_001153632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 5 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type V subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "hH1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha isoform e",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 5 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type V, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN5A",
                    "type": "recommended"
                },
                {
                    "name": "CDCD2",
                    "type": "synonym"
                },
                {
                    "name": "CMD1E",
                    "type": "synonym"
                },
                {
                    "name": "CMPD2",
                    "type": "synonym"
                },
                {
                    "name": "HB1",
                    "type": "synonym"
                },
                {
                    "name": "HB2",
                    "type": "synonym"
                },
                {
                    "name": "HBBD",
                    "type": "synonym"
                },
                {
                    "name": "HH1",
                    "type": "synonym"
                },
                {
                    "name": "ICCD",
                    "type": "synonym"
                },
                {
                    "name": "IVF",
                    "type": "synonym"
                },
                {
                    "name": "LQT3",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.5",
                    "type": "synonym"
                },
                {
                    "name": "PFHB1",
                    "type": "synonym"
                },
                {
                    "name": "SCN5A",
                    "type": "synonym"
                },
                {
                    "name": "SSS1",
                    "type": "synonym"
                },
                {
                    "name": "VF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14524-1",
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                {
                    "id": "601144",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601144"
                },
                {
                    "id": "0110218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50077-1",
            "uniprot_ac": "P50077",
            "uniprot_id": "CCH1_YEAST",
            "refseq_ac": "NP_011733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-channel protein CCH1",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel protein CCH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCH1",
                    "type": "recommended"
                },
                {
                    "name": "CCH1",
                    "type": "synonym"
                },
                {
                    "name": "G8501",
                    "type": "synonym"
                }
            ],
            "record_id": "P50077-1",
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                {
                    "id": "0110218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15389-1",
            "uniprot_ac": "P15389",
            "uniprot_id": "SCN5A_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 5 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein cardiac muscle subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type V subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn5a",
                    "type": "recommended"
                }
            ],
            "record_id": "P15389-1",
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                {
                    "id": "0110218",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35500-1",
            "uniprot_ac": "P35500",
            "uniprot_id": "SCNA_DROME",
            "refseq_ac": "NP_001036280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "Out cold",
                    "type": "synonym"
                },
                {
                    "name": "Out-cold",
                    "type": "synonym"
                },
                {
                    "name": "Protein paralytic",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "bang senseless",
                    "type": "synonym"
                },
                {
                    "name": "bang sensitive",
                    "type": "synonym"
                },
                {
                    "name": "bang-senseless",
                    "type": "synonym"
                },
                {
                    "name": "bangsenseless",
                    "type": "synonym"
                },
                {
                    "name": "para-PB",
                    "type": "synonym"
                },
                {
                    "name": "paralytic, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "paralytic",
                    "type": "synonym"
                },
                {
                    "name": "paralyzed",
                    "type": "synonym"
                },
                {
                    "name": "shudderer",
                    "type": "synonym"
                },
                {
                    "name": "smell-blind",
                    "type": "synonym"
                },
                {
                    "name": "smellblind",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated sodium ion channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-sensitive sodium channel",
                    "type": "synonym"
                }
            ],
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                    "name": "para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[V]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]1",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "DmNav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Nav1",
                    "type": "synonym"
                },
                {
                    "name": "Ocd",
                    "type": "synonym"
                },
                {
                    "name": "Para",
                    "type": "synonym"
                },
                {
                    "name": "Scn1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Shudderer",
                    "type": "synonym"
                },
                {
                    "name": "Shu",
                    "type": "synonym"
                },
                {
                    "name": "VSSC",
                    "type": "synonym"
                },
                {
                    "name": "bas",
                    "type": "synonym"
                },
                {
                    "name": "bss",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Da",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ESHS48",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9469",
                    "type": "synonym"
                },
                {
                    "name": "olfD",
                    "type": "synonym"
                },
                {
                    "name": "para13-5",
                    "type": "synonym"
                },
                {
                    "name": "para",
                    "type": "synonym"
                },
                {
                    "name": "par",
                    "type": "synonym"
                },
                {
                    "name": "sbl-1",
                    "type": "synonym"
                },
                {
                    "name": "sbl",
                    "type": "synonym"
                }
            ],
            "record_id": "P35500-1",
            "evidence": [
                {
                    "id": "0110218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110218"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110218"
}