{
    "disease_id": "DOID:0110648",
    "recommended_name": {
        "id": "DOID:0110648",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110648",
        "name": "long QT syndrome 6",
        "description": "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11."
    },
    "synonyms": [
        {
            "id": "DOID:0110648",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110648",
            "name": "LQT6",
            "description": ""
        },
        {
            "id": "MONDO:0013370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013370",
            "name": "long QT syndrome 6",
            "description": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene."
        },
        {
            "id": "MONDO:0013370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013370",
            "name": "KCNE2 long QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013370",
            "name": "LQT6",
            "description": ""
        },
        {
            "id": "MONDO:0013370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013370",
            "name": "long QT syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0013370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013370",
            "name": "long QT syndrome caused by mutation in KCNE2",
            "description": ""
        },
        {
            "id": "MONDO:0013370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013370",
            "name": "long QT syndrome type 6",
            "description": ""
        },
        {
            "id": "MIM:613693",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613693",
            "name": "Long QT syndrome 6",
            "description": "Long QT syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110648"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110648",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110648",
            "categories": []
        },
        {
            "id": "MONDO:0013370",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013370",
            "categories": []
        },
        {
            "id": "MIM:613693",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613693",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D808-1",
            "uniprot_ac": "Q9D808",
            "uniprot_id": "KCNE2_MOUSE",
            "refseq_ac": "NP_598871",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "MinK-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Minimum potassium ion channel-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit beta MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "minK-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "minimum potassium ion channel related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit beta MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily E member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcne2",
                    "type": "recommended"
                },
                {
                    "name": "2200002I16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kcne2",
                    "type": "synonym"
                },
                {
                    "name": "MiRP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D808-1",
            "evidence": [
                {
                    "id": "0110648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110648"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6J6-1",
            "uniprot_ac": "Q9Y6J6",
            "uniprot_id": "KCNE2_HUMAN",
            "refseq_ac": "NP_751951",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "MinK-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Minimum potassium ion channel-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit beta MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "cardiac voltage-gated potassium channel accessory subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "minK-related peptide-1",
                    "type": "synonym"
                },
                {
                    "name": "minimum potassium ion channel-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit beta MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit, MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated subfamily E regulatory beta subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily E member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Isk-related family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated K+ channel subunit MIRP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNE2",
                    "type": "recommended"
                },
                {
                    "name": "ATFB4",
                    "type": "synonym"
                },
                {
                    "name": "KCNE2",
                    "type": "synonym"
                },
                {
                    "name": "LQT5",
                    "type": "synonym"
                },
                {
                    "name": "LQT6",
                    "type": "synonym"
                },
                {
                    "name": "MIRP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6J6-1",
            "evidence": [
                {
                    "id": "613693",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613693"
                },
                {
                    "id": "0110648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110648"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63161-1",
            "uniprot_ac": "P63161",
            "uniprot_id": "KCNE2_RAT",
            "refseq_ac": "NP_598287",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "MinK-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Minimum potassium ion channel-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit beta MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "minK-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "minimum potassium ion channel-related peptide 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit beta MiRP1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated subfamily E regulatory beta subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated Isk-related subfamily E regulatory beta subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily E member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Isk-related family, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Isk-related subfamily, gene 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcne2",
                    "type": "recommended"
                },
                {
                    "name": "Kcne2",
                    "type": "synonym"
                },
                {
                    "name": "Mirp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63161-1",
            "evidence": [
                {
                    "id": "0110648",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110648"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110648"
}