{
    "disease_id": "DOID:0110225",
    "recommended_name": {
        "id": "DOID:0110225",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110225",
        "name": "Brugada syndrome 8",
        "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110225",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110225",
            "name": "BRGDA8",
            "description": ""
        },
        {
            "id": "MONDO:0013148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013148",
            "name": "Brugada syndrome 8",
            "description": "Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene."
        },
        {
            "id": "MONDO:0013148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013148",
            "name": "BRGDA8",
            "description": ""
        },
        {
            "id": "MONDO:0013148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013148",
            "name": "Brugada syndrome 8",
            "description": ""
        },
        {
            "id": "MONDO:0013148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013148",
            "name": "Brugada syndrome caused by mutation in HCN4",
            "description": ""
        },
        {
            "id": "MONDO:0013148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013148",
            "name": "Brugada syndrome type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013148",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013148",
            "name": "HCN4 Brugada syndrome",
            "description": ""
        },
        {
            "id": "MIM:613123",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613123",
            "name": "Brugada syndrome 8",
            "description": "Brugada syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110225"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110225",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110225",
            "categories": []
        },
        {
            "id": "MONDO:0013148",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013148",
            "categories": []
        },
        {
            "id": "MIM:613123",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613123",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UQR8-1",
            "uniprot_ac": "A0A8N7UQR8",
            "uniprot_id": "A0A8N7UQR8_DANRE",
            "refseq_ac": "XP_686078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hcn4",
                    "type": "recommended"
                },
                {
                    "name": "hcn4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UQR8-1",
            "evidence": [
                {
                    "id": "0110225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N7TEJ3-1",
            "uniprot_ac": "A0A8N7TEJ3",
            "uniprot_id": "A0A8N7TEJ3_DANRE",
            "refseq_ac": "XP_684730",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hcn4l",
                    "type": "recommended"
                },
                {
                    "name": "hcn4l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TEJ3-1",
            "evidence": [
                {
                    "id": "0110225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70507-1",
            "uniprot_ac": "O70507",
            "uniprot_id": "HCN4_MOUSE",
            "refseq_ac": "NP_001074661",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4",
                    "type": "recommended"
                },
                {
                    "name": "BCNG-3",
                    "type": "synonym"
                },
                {
                    "name": "Brain cyclic nucleotide-gated channel 3",
                    "type": "synonym"
                },
                {
                    "name": "brain cyclic nucleotide-gated channel 3",
                    "type": "synonym"
                },
                {
                    "name": "hyperpolarization-activated, cyclic nucleotide-gated K+ 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hcn4",
                    "type": "recommended"
                },
                {
                    "name": "Bcng3",
                    "type": "synonym"
                },
                {
                    "name": "Hcn3",
                    "type": "synonym"
                },
                {
                    "name": "Hcn4",
                    "type": "synonym"
                }
            ],
            "record_id": "O70507-1",
            "evidence": [
                {
                    "id": "0110225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3Q4-1",
            "uniprot_ac": "Q9Y3Q4",
            "uniprot_id": "HCN4_HUMAN",
            "refseq_ac": "NP_005468",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4",
                    "type": "recommended"
                },
                {
                    "name": "hyperpolarization activated cyclic nucleotide-gated cation channel 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HCN4",
                    "type": "recommended"
                },
                {
                    "name": "BRGDA8",
                    "type": "synonym"
                },
                {
                    "name": "EIG18",
                    "type": "synonym"
                },
                {
                    "name": "HCN4",
                    "type": "synonym"
                },
                {
                    "name": "SSS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3Q4-1",
            "evidence": [
                {
                    "id": "613123",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613123"
                },
                {
                    "id": "0110225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKA7-1",
            "uniprot_ac": "Q9JKA7",
            "uniprot_id": "HCN4_RAT",
            "refseq_ac": "NP_067690",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4",
                    "type": "recommended"
                },
                {
                    "name": "hyperpolarization-activated, cyclic nucleotide-gated K+ 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hcn4",
                    "type": "recommended"
                },
                {
                    "name": "Hcn4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKA7-1",
            "evidence": [
                {
                    "id": "0110225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9N7-1",
            "uniprot_ac": "A1Z9N7",
            "uniprot_id": "A1Z9N7_DROME",
            "refseq_ac": "NP_001033948",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8585-PE",
                    "type": "synonym"
                },
                {
                    "name": "I[[h]] channel, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Ih channel",
                    "type": "synonym"
                },
                {
                    "name": "Ih-PE",
                    "type": "synonym"
                },
                {
                    "name": "Ih-channel",
                    "type": "synonym"
                },
                {
                    "name": "drosophila melanogaster I[[h]]-channel",
                    "type": "synonym"
                },
                {
                    "name": "putative Ih-channel",
                    "type": "synonym"
                },
                {
                    "name": "putative-voltage-and-cyclic-nucleotide-gated-ion-channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ih",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH25778",
                    "type": "synonym"
                },
                {
                    "name": "CG8585",
                    "type": "synonym"
                },
                {
                    "name": "CR30068",
                    "type": "synonym"
                },
                {
                    "name": "DMIH",
                    "type": "synonym"
                },
                {
                    "name": "DmIh",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8585",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8585",
                    "type": "synonym"
                },
                {
                    "name": "I[[h]]",
                    "type": "synonym"
                },
                {
                    "name": "Ih",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9N7-1",
            "evidence": [
                {
                    "id": "0110225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110225"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110225"
}