{
    "disease_id": "DOID:0111700",
    "recommended_name": {
        "id": "DOID:0111700",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111700",
        "name": "ankyrin-B-related cardiac arrhythmia",
        "description": "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26."
    },
    "synonyms": [
        {
            "id": "DOID:0111700",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111700",
            "name": "ankyrin-B syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010958",
            "name": "cardiac arrhythmia, ankyrin-B-related",
            "description": ""
        },
        {
            "id": "MONDO:0010958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010958",
            "name": "ankyrin-B syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010958",
            "name": "cardiac arrhythmia, ankyrin-b-related",
            "description": ""
        },
        {
            "id": "MONDO:0010958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010958",
            "name": "LQT4",
            "description": ""
        },
        {
            "id": "MIM:600919",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600919",
            "name": "Long QT syndrome 4",
            "description": "Long QT syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111700"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111700",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111700",
            "categories": []
        },
        {
            "id": "MONDO:0010958",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010958",
            "categories": []
        },
        {
            "id": "MIM:600919",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600919",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QDK6-1",
            "uniprot_ac": "A0A8M9QDK6",
            "uniprot_id": "A0A8M9QDK6_DANRE",
            "refseq_ac": "XP_021331695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ank2a",
                    "type": "recommended"
                },
                {
                    "name": "ank2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QDK6-1",
            "evidence": [
                {
                    "id": "0111700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QGU1-1",
            "uniprot_ac": "A0A8M9QGU1",
            "uniprot_id": "A0A8M9QGU1_DANRE",
            "refseq_ac": "XP_021333150",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin-2b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ank2b",
                    "type": "recommended"
                },
                {
                    "name": "ank2b",
                    "type": "synonym"
                },
                {
                    "name": "ank2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101738",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QGU1-1",
            "evidence": [
                {
                    "id": "0111700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C8R3-1",
            "uniprot_ac": "Q8C8R3",
            "uniprot_id": "ANK2_MOUSE",
            "refseq_ac": "NP_001029340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin-2",
                    "type": "recommended"
                },
                {
                    "name": "ANK-2",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-B",
                    "type": "synonym"
                },
                {
                    "name": "Brain ankyrin",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ank2",
                    "type": "recommended"
                },
                {
                    "name": "100043364",
                    "type": "synonym"
                },
                {
                    "name": "Ank-2",
                    "type": "synonym"
                },
                {
                    "name": "Ank2",
                    "type": "synonym"
                },
                {
                    "name": "AnkB",
                    "type": "synonym"
                },
                {
                    "name": "Gm4392",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C8R3-1",
            "evidence": [
                {
                    "id": "0111700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01484-4",
            "uniprot_ac": "Q01484",
            "uniprot_id": "ANK2_HUMAN",
            "refseq_ac": "NP_001120965",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin-2",
                    "type": "recommended"
                },
                {
                    "name": "ANK-2",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-B",
                    "type": "synonym"
                },
                {
                    "name": "Brain ankyrin",
                    "type": "synonym"
                },
                {
                    "name": "Non-erythroid ankyrin",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin 2, neuronal",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin B",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin, brain",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-2, nonerythrocytic",
                    "type": "synonym"
                },
                {
                    "name": "non-erythroid ankyrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANK2",
                    "type": "recommended"
                },
                {
                    "name": "ANK-2",
                    "type": "synonym"
                },
                {
                    "name": "ANK2",
                    "type": "synonym"
                },
                {
                    "name": "ANKB",
                    "type": "synonym"
                },
                {
                    "name": "CFAP87",
                    "type": "synonym"
                },
                {
                    "name": "FAP87",
                    "type": "synonym"
                },
                {
                    "name": "LQT4",
                    "type": "synonym"
                },
                {
                    "name": "brank-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01484-4",
            "evidence": [
                {
                    "id": "600919",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600919"
                },
                {
                    "id": "0111700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M5N3-1",
            "uniprot_ac": "F1M5N3",
            "uniprot_id": "F1M5N3_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": "Ankyrin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ank2",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M5N3-1",
            "evidence": [
                {
                    "id": "0111700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9MRX4-1",
            "uniprot_ac": "M9MRX4",
            "uniprot_id": "M9MRX4_DROME",
            "refseq_ac": "NP_001189070",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ank2-PU",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin 2, isoform U",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin2 extra large",
                    "type": "synonym"
                },
                {
                    "name": "CG42734-PU",
                    "type": "synonym"
                },
                {
                    "name": "Dank2",
                    "type": "synonym"
                },
                {
                    "name": "SP2523",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin 2, isoform U",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin2-XL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ank2",
                    "type": "recommended"
                },
                {
                    "name": "Ank2",
                    "type": "synonym"
                },
                {
                    "name": "CG18025",
                    "type": "synonym"
                },
                {
                    "name": "CG18227",
                    "type": "synonym"
                },
                {
                    "name": "CG18768",
                    "type": "synonym"
                },
                {
                    "name": "CG32373",
                    "type": "synonym"
                },
                {
                    "name": "CG32375",
                    "type": "synonym"
                },
                {
                    "name": "CG32377",
                    "type": "synonym"
                },
                {
                    "name": "CG34121",
                    "type": "synonym"
                },
                {
                    "name": "CG34158",
                    "type": "synonym"
                },
                {
                    "name": "CG34416",
                    "type": "synonym"
                },
                {
                    "name": "CG42734",
                    "type": "synonym"
                },
                {
                    "name": "CG7462",
                    "type": "synonym"
                },
                {
                    "name": "CG7493",
                    "type": "synonym"
                },
                {
                    "name": "DAnk2",
                    "type": "synonym"
                },
                {
                    "name": "Dank2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42734",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:149B10S",
                    "type": "synonym"
                },
                {
                    "name": "SP2523",
                    "type": "synonym"
                },
                {
                    "name": "ank2-L",
                    "type": "synonym"
                },
                {
                    "name": "ank2",
                    "type": "synonym"
                },
                {
                    "name": "dank2",
                    "type": "synonym"
                },
                {
                    "name": "sp2523",
                    "type": "synonym"
                }
            ],
            "record_id": "M9MRX4-1",
            "evidence": [
                {
                    "id": "0111700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111700"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KIE7-1",
            "uniprot_ac": "Q0KIE7",
            "uniprot_id": "Q0KIE7_DROME",
            "refseq_ac": "NP_001162819",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ank-PE",
                    "type": "synonym"
                },
                {
                    "name": "Ank1",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "CG1651-PE",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ank",
                    "type": "recommended"
                },
                {
                    "name": "ANK",
                    "type": "synonym"
                },
                {
                    "name": "Ank",
                    "type": "synonym"
                },
                {
                    "name": "CG1651",
                    "type": "synonym"
                },
                {
                    "name": "CG32008",
                    "type": "synonym"
                },
                {
                    "name": "DAnk1",
                    "type": "synonym"
                },
                {
                    "name": "Dank1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1651",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1651",
                    "type": "synonym"
                },
                {
                    "name": "ank",
                    "type": "synonym"
                },
                {
                    "name": "dank1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KIE7-1",
            "evidence": [
                {
                    "id": "0111700",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111700"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111700"
}