{
    "disease_id": "DOID:0110647",
    "recommended_name": {
        "id": "DOID:0110647",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110647",
        "name": "long QT syndrome 5",
        "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12."
    },
    "synonyms": [
        {
            "id": "DOID:0110647",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110647",
            "name": "LQT5",
            "description": ""
        },
        {
            "id": "MONDO:0013372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013372",
            "name": "long QT syndrome 5",
            "description": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene."
        },
        {
            "id": "MONDO:0013372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013372",
            "name": "KCNE1 long QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013372",
            "name": "LQT5",
            "description": ""
        },
        {
            "id": "MONDO:0013372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013372",
            "name": "long QT syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0013372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013372",
            "name": "long QT syndrome caused by mutation in KCNE1",
            "description": ""
        },
        {
            "id": "MONDO:0013372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013372",
            "name": "long QT syndrome type 5",
            "description": ""
        },
        {
            "id": "MIM:613695",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613695",
            "name": "Long QT syndrome 5",
            "description": "Long QT syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110647"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110647",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110647",
            "categories": []
        },
        {
            "id": "MONDO:0013372",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013372",
            "categories": []
        },
        {
            "id": "MIM:613695",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613695",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P23299-1",
            "uniprot_ac": "P23299",
            "uniprot_id": "KCNE1_MOUSE",
            "refseq_ac": "NP_032450",
            "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 E member 1",
                    "type": "recommended"
                },
                {
                    "name": "Delayed rectifier potassium channel subunit IsK",
                    "type": "synonym"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit beta Mink",
                    "type": "synonym"
                },
                {
                    "name": "MinK",
                    "type": "synonym"
                },
                {
                    "name": "Minimal potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "delayed rectifier potassium channel subunit IsK",
                    "type": "synonym"
                },
                {
                    "name": "mISK",
                    "type": "synonym"
                },
                {
                    "name": "minimal potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily E member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcne1",
                    "type": "recommended"
                },
                {
                    "name": "Isk",
                    "type": "synonym"
                },
                {
                    "name": "Kcne1",
                    "type": "synonym"
                },
                {
                    "name": "MinK",
                    "type": "synonym"
                },
                {
                    "name": "nmf190",
                    "type": "synonym"
                }
            ],
            "record_id": "P23299-1",
            "evidence": [
                {
                    "id": "0110647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15382-1",
            "uniprot_ac": "P15382",
            "uniprot_id": "KCNE1_HUMAN",
            "refseq_ac": "NP_000210",
            "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 E member 1",
                    "type": "recommended"
                },
                {
                    "name": "Delayed rectifier potassium channel subunit IsK",
                    "type": "synonym"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit beta Mink",
                    "type": "synonym"
                },
                {
                    "name": "Long QT syndrome 5",
                    "type": "synonym"
                },
                {
                    "name": "MinK",
                    "type": "synonym"
                },
                {
                    "name": "Minimal potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "cardiac delayed rectifier potassium channel protein",
                    "type": "synonym"
                },
                {
                    "name": "delayed rectifier potassium channel subunit IsK",
                    "type": "synonym"
                },
                {
                    "name": "minimal potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated subfamily E regulatory beta subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily E member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Isk-related family, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Isk-related subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated potassiun channel accessory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNE1",
                    "type": "recommended"
                },
                {
                    "name": "ISK",
                    "type": "synonym"
                },
                {
                    "name": "JLNS2",
                    "type": "synonym"
                },
                {
                    "name": "JLNS",
                    "type": "synonym"
                },
                {
                    "name": "KCNE1",
                    "type": "synonym"
                },
                {
                    "name": "LQT2/5",
                    "type": "synonym"
                },
                {
                    "name": "LQT5",
                    "type": "synonym"
                },
                {
                    "name": "MinK",
                    "type": "synonym"
                }
            ],
            "record_id": "P15382-1",
            "evidence": [
                {
                    "id": "613695",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613695"
                },
                {
                    "id": "0110647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15383-1",
            "uniprot_ac": "P15383",
            "uniprot_id": "KCNE1_RAT",
            "refseq_ac": "NP_037105",
            "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 E member 1",
                    "type": "recommended"
                },
                {
                    "name": "Delayed rectifier potassium channel subunit IsK",
                    "type": "synonym"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit beta Mink",
                    "type": "synonym"
                },
                {
                    "name": "MinK",
                    "type": "synonym"
                },
                {
                    "name": "Minimal potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "delayed rectifier potassium channel subunit IsK",
                    "type": "synonym"
                },
                {
                    "name": "minimal potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "mink",
                    "type": "synonym"
                },
                {
                    "name": "potassium (K+) channel protein, slowly activating (Isk)",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated subfamily E regulatory beta subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated Isk-related subfamily E regulatory beta subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel Shaw-related subfamily member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily E member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Isk-related family, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Isk-related subfamily, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcne1",
                    "type": "recommended"
                },
                {
                    "name": "Isk",
                    "type": "synonym"
                },
                {
                    "name": "Kcne1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15383-1",
            "evidence": [
                {
                    "id": "0110647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110647"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24855-1",
            "uniprot_ac": "P24855",
            "uniprot_id": "DNAS1_HUMAN",
            "refseq_ac": "NP_005214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyribonuclease-1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.21.1",
                    "type": "synonym"
                },
                {
                    "name": "DNase I, lysosomal",
                    "type": "synonym"
                },
                {
                    "name": "DNase I",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyribonuclease I",
                    "type": "synonym"
                },
                {
                    "name": "Dornase alfa",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "human urine deoxyribonuclease I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNASE1",
                    "type": "recommended"
                },
                {
                    "name": "DNASE1",
                    "type": "synonym"
                },
                {
                    "name": "DNL1",
                    "type": "synonym"
                },
                {
                    "name": "DRNI",
                    "type": "synonym"
                }
            ],
            "record_id": "P24855-1",
            "evidence": [
                {
                    "id": "0110647",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110647"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110647"
}