{
    "disease_id": "DOID:0110644",
    "recommended_name": {
        "id": "DOID:0110644",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110644",
        "name": "long QT syndrome 1",
        "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4."
    },
    "synonyms": [
        {
            "id": "DOID:0110644",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110644",
            "name": "LQT1",
            "description": ""
        },
        {
            "id": "DOID:0110644",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110644",
            "name": "ventricular fibrillation with prolonged QT interval",
            "description": ""
        },
        {
            "id": "MONDO:0100316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100316",
            "name": "long QT syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0100316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100316",
            "name": "LQT1",
            "description": ""
        },
        {
            "id": "MONDO:0100316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100316",
            "name": "long QT syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0100316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100316",
            "name": "long QT syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100316",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100316",
            "name": "ventricular fibrillation with prolonged QT interval",
            "description": ""
        },
        {
            "id": "MIM:192500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/192500",
            "name": "Long QT syndrome 1",
            "description": "Long QT syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110644"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110644",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110644",
            "categories": []
        },
        {
            "id": "MONDO:0100316",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100316",
            "categories": []
        },
        {
            "id": "MIM:192500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/192500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58FZ01-1",
            "uniprot_ac": "A0AC58FZ01",
            "uniprot_id": "A0AC58FZ01_DANRE",
            "refseq_ac": "XP_073762763",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 1",
                    "type": "recommended"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1",
                    "type": "synonym"
                },
                {
                    "name": "KQT-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1.1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnq1.1",
                    "type": "recommended"
                },
                {
                    "name": "kcnq1.1",
                    "type": "synonym"
                },
                {
                    "name": "kcnq1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158384",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58FZ01-1",
            "evidence": [
                {
                    "id": "0110644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110644"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97414-1",
            "uniprot_ac": "P97414",
            "uniprot_id": "KCNQ1_MOUSE",
            "refseq_ac": "NP_032460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 1",
                    "type": "recommended"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1",
                    "type": "synonym"
                },
                {
                    "name": "KQT-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq1",
                    "type": "recommended"
                },
                {
                    "name": "KVLQT1",
                    "type": "synonym"
                },
                {
                    "name": "Kcna9",
                    "type": "synonym"
                },
                {
                    "name": "Kcnq1",
                    "type": "synonym"
                },
                {
                    "name": "Kvlqt1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97414-1",
            "evidence": [
                {
                    "id": "0110644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110644"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51787-1",
            "uniprot_ac": "P51787",
            "uniprot_id": "KCNQ1_HUMAN",
            "refseq_ac": "NP_000209",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 1",
                    "type": "recommended"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1",
                    "type": "synonym"
                },
                {
                    "name": "KQT-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "kidney and cardiac voltage dependend K+ channel",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated KQT-like subfamily Q, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, KQT-like subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "slow delayed rectifier channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNQ1",
                    "type": "recommended"
                },
                {
                    "name": "ATFB1",
                    "type": "synonym"
                },
                {
                    "name": "ATFB3",
                    "type": "synonym"
                },
                {
                    "name": "JLNS1",
                    "type": "synonym"
                },
                {
                    "name": "KCNA8",
                    "type": "synonym"
                },
                {
                    "name": "KCNA9",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ1",
                    "type": "synonym"
                },
                {
                    "name": "KVLQT1",
                    "type": "synonym"
                },
                {
                    "name": "Kv1.9",
                    "type": "synonym"
                },
                {
                    "name": "Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "LQT1",
                    "type": "synonym"
                },
                {
                    "name": "LQT",
                    "type": "synonym"
                },
                {
                    "name": "RWS",
                    "type": "synonym"
                },
                {
                    "name": "SQT2",
                    "type": "synonym"
                },
                {
                    "name": "WRS",
                    "type": "synonym"
                }
            ],
            "record_id": "P51787-1",
            "evidence": [
                {
                    "id": "192500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/192500"
                },
                {
                    "id": "0110644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110644"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0N7-1",
            "uniprot_ac": "Q9Z0N7",
            "uniprot_id": "KCNQ1_RAT",
            "refseq_ac": "NP_114462",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 1",
                    "type": "recommended"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1",
                    "type": "synonym"
                },
                {
                    "name": "KQT-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated KQT-like subfamily Q, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, KQT-like subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq1",
                    "type": "recommended"
                },
                {
                    "name": "Kcna9",
                    "type": "synonym"
                },
                {
                    "name": "Kcnq1",
                    "type": "synonym"
                },
                {
                    "name": "Kvlqt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0N7-1",
            "evidence": [
                {
                    "id": "0110644",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110644"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110644"
}