{
    "disease_id": "DOID:0110226",
    "recommended_name": {
        "id": "DOID:0110226",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110226",
        "name": "Brugada syndrome 9",
        "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110226",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110226",
            "name": "BRGDA9",
            "description": ""
        },
        {
            "id": "MONDO:0014621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014621",
            "name": "Brugada syndrome 9",
            "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene."
        },
        {
            "id": "MONDO:0014621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014621",
            "name": "BRGDA9",
            "description": ""
        },
        {
            "id": "MONDO:0014621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014621",
            "name": "Brugada syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0014621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014621",
            "name": "Brugada syndrome caused by mutation in KCND3",
            "description": ""
        },
        {
            "id": "MONDO:0014621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014621",
            "name": "Brugada syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014621",
            "name": "KCND3 Brugada syndrome",
            "description": ""
        },
        {
            "id": "MIM:616399",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616399",
            "name": "Brugada syndrome 9",
            "description": "Brugada syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110226"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110226",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110226",
            "categories": []
        },
        {
            "id": "MONDO:0014621",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014621",
            "categories": []
        },
        {
            "id": "MIM:616399",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616399",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0V1-1",
            "uniprot_ac": "Q9Z0V1",
            "uniprot_id": "KCND3_MOUSE",
            "refseq_ac": "NP_001034436",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "recommended"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily D member 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel Kv4.3L",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel Kv4.3M",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily D member 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnd3",
                    "type": "recommended"
                },
                {
                    "name": "Kcnd3",
                    "type": "synonym"
                },
                {
                    "name": "Kncd3",
                    "type": "synonym"
                },
                {
                    "name": "Kv4.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0V1-1",
            "evidence": [
                {
                    "id": "0110226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UK17-1",
            "uniprot_ac": "Q9UK17",
            "uniprot_id": "KCND3_HUMAN",
            "refseq_ac": "NP_004971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "recommended"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily D member 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shal related subfamily D, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium ionic channel Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel long",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Shal-related subfamily, member 3",
                    "type": "synonym"
                },
                {
                    "name": "sha1-related potassium channel Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated K+ channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCND3",
                    "type": "recommended"
                },
                {
                    "name": "BRGDA9",
                    "type": "synonym"
                },
                {
                    "name": "KCND3L",
                    "type": "synonym"
                },
                {
                    "name": "KCND3S",
                    "type": "synonym"
                },
                {
                    "name": "KCND3",
                    "type": "synonym"
                },
                {
                    "name": "KSHIVB",
                    "type": "synonym"
                },
                {
                    "name": "KV4.3",
                    "type": "synonym"
                },
                {
                    "name": "SCA19",
                    "type": "synonym"
                },
                {
                    "name": "SCA22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UK17-1",
            "evidence": [
                {
                    "id": "616399",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616399"
                },
                {
                    "id": "0110226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62897-1",
            "uniprot_ac": "Q62897",
            "uniprot_id": "KCND3_RAT",
            "refseq_ac": "NP_001257891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "recommended"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily D member 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated Shal-related subfamily D, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage gated channel, Shal-related family, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Shal-related subfamily, member 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnd3",
                    "type": "recommended"
                },
                {
                    "name": "Kcnd3",
                    "type": "synonym"
                },
                {
                    "name": "Kv4.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62897-1",
            "evidence": [
                {
                    "id": "0110226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17971-2",
            "uniprot_ac": "P17971",
            "uniprot_id": "KCNAL_DROME",
            "refseq_ac": "NP_001097646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel protein Shal",
                    "type": "recommended"
                },
                {
                    "name": "CG9262-PB",
                    "type": "synonym"
                },
                {
                    "name": "Shaker cognate l",
                    "type": "synonym"
                },
                {
                    "name": "Shaker-like",
                    "type": "synonym"
                },
                {
                    "name": "Shal-PB",
                    "type": "synonym"
                },
                {
                    "name": "Shal2",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate 1",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate L",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate l, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shal",
                    "type": "recommended"
                },
                {
                    "name": "CG9262",
                    "type": "synonym"
                },
                {
                    "name": "DNK[[v]]4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9262",
                    "type": "synonym"
                },
                {
                    "name": "K[[v]]4",
                    "type": "synonym"
                },
                {
                    "name": "Kv4/Shal",
                    "type": "synonym"
                },
                {
                    "name": "Kv4",
                    "type": "synonym"
                },
                {
                    "name": "SHAL2",
                    "type": "synonym"
                },
                {
                    "name": "Sh-l",
                    "type": "synonym"
                },
                {
                    "name": "ShaI",
                    "type": "synonym"
                },
                {
                    "name": "Shal",
                    "type": "synonym"
                },
                {
                    "name": "Shl",
                    "type": "synonym"
                },
                {
                    "name": "dShal",
                    "type": "synonym"
                },
                {
                    "name": "shaI",
                    "type": "synonym"
                },
                {
                    "name": "shal",
                    "type": "synonym"
                }
            ],
            "record_id": "P17971-2",
            "evidence": [
                {
                    "id": "0110226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110226"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110226"
}