{
    "disease_id": "DOID:0110654",
    "recommended_name": {
        "id": "DOID:0110654",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110654",
        "name": "long QT syndrome 13",
        "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110654",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110654",
            "name": "LQT13",
            "description": ""
        },
        {
            "id": "MONDO:0013279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013279",
            "name": "long QT syndrome 13",
            "description": "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene."
        },
        {
            "id": "MONDO:0013279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013279",
            "name": "KCNJ5 long QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013279",
            "name": "LQT13",
            "description": ""
        },
        {
            "id": "MONDO:0013279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013279",
            "name": "long QT syndrome 13",
            "description": ""
        },
        {
            "id": "MONDO:0013279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013279",
            "name": "long QT syndrome caused by mutation in KCNJ5",
            "description": ""
        },
        {
            "id": "MONDO:0013279",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013279",
            "name": "long QT syndrome type 13",
            "description": ""
        },
        {
            "id": "MIM:613485",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613485",
            "name": "Long QT syndrome 13",
            "description": "Long QT syndrome 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110654"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110654",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110654",
            "categories": []
        },
        {
            "id": "MONDO:0013279",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013279",
            "categories": []
        },
        {
            "id": "MIM:613485",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613485",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IAD0-1",
            "uniprot_ac": "A0A0R4IAD0",
            "uniprot_id": "A0A0R4IAD0_DANRE",
            "refseq_ac": "XP_700619",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-activated inward rectifier potassium channel 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj5",
                    "type": "recommended"
                },
                {
                    "name": "kcnj5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IAD0-1",
            "evidence": [
                {
                    "id": "0110654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48545-1",
            "uniprot_ac": "P48545",
            "uniprot_id": "KCNJ5_MOUSE",
            "refseq_ac": "NP_034735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-activated inward rectifier potassium channel 4",
                    "type": "recommended"
                },
                {
                    "name": "CIR",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac inward rectifier",
                    "type": "synonym"
                },
                {
                    "name": "G protein-activated inward rectifier potassium channel 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GIRK-4",
                    "type": "synonym"
                },
                {
                    "name": "Heart KATP channel",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir3.4",
                    "type": "synonym"
                },
                {
                    "name": "KATP-1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac inward rectifier",
                    "type": "synonym"
                },
                {
                    "name": "g protein-activated inward rectifier potassium channel 4",
                    "type": "synonym"
                },
                {
                    "name": "heart KATP channel",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir3.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj5",
                    "type": "recommended"
                },
                {
                    "name": "CIR",
                    "type": "synonym"
                },
                {
                    "name": "GIRK4",
                    "type": "synonym"
                },
                {
                    "name": "Girk4",
                    "type": "synonym"
                },
                {
                    "name": "KATP-1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj5",
                    "type": "synonym"
                },
                {
                    "name": "Kir3.4",
                    "type": "synonym"
                }
            ],
            "record_id": "P48545-1",
            "evidence": [
                {
                    "id": "0110654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48544-1",
            "uniprot_ac": "P48544",
            "uniprot_id": "KCNJ5_HUMAN",
            "refseq_ac": "NP_000881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-activated inward rectifier potassium channel 4",
                    "type": "recommended"
                },
                {
                    "name": "CIR",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac inward rectifier",
                    "type": "synonym"
                },
                {
                    "name": "G protein-activated inward rectifier potassium channel 4",
                    "type": "synonym"
                },
                {
                    "name": "GIRK-4",
                    "type": "synonym"
                },
                {
                    "name": "Heart KATP channel",
                    "type": "synonym"
                },
                {
                    "name": "IRK-4",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir3.4",
                    "type": "synonym"
                },
                {
                    "name": "KATP-1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac ATP-sensitive potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "heart KATP channel",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K+ channel KIR3.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J, member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ5",
                    "type": "recommended"
                },
                {
                    "name": "CIR",
                    "type": "synonym"
                },
                {
                    "name": "GIRK4",
                    "type": "synonym"
                },
                {
                    "name": "KATP1",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ5",
                    "type": "synonym"
                },
                {
                    "name": "KIR3.4",
                    "type": "synonym"
                },
                {
                    "name": "LQT13",
                    "type": "synonym"
                }
            ],
            "record_id": "P48544-1",
            "evidence": [
                {
                    "id": "613485",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613485"
                },
                {
                    "id": "0110654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48548-1",
            "uniprot_ac": "P48548",
            "uniprot_id": "KCNJ5_RAT",
            "refseq_ac": "NP_058993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-activated inward rectifier potassium channel 4",
                    "type": "recommended"
                },
                {
                    "name": "CIR",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac inward rectifier",
                    "type": "synonym"
                },
                {
                    "name": "G protein-activated inward rectifier potassium channel 4",
                    "type": "synonym"
                },
                {
                    "name": "GIRK-4",
                    "type": "synonym"
                },
                {
                    "name": "GIRK4",
                    "type": "synonym"
                },
                {
                    "name": "Heart KATP channel",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir3.4",
                    "type": "synonym"
                },
                {
                    "name": "KATP-1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac inward rectifier",
                    "type": "synonym"
                },
                {
                    "name": "heart KATP channel",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir3.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj5",
                    "type": "recommended"
                },
                {
                    "name": "Girk4",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj5",
                    "type": "synonym"
                }
            ],
            "record_id": "P48548-1",
            "evidence": [
                {
                    "id": "0110654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110654"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KH86-1",
            "uniprot_ac": "A0A0B4KH86",
            "uniprot_id": "A0A0B4KH86_DROME",
            "refseq_ac": "NP_001262861",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG44159-PF",
                    "type": "synonym"
                },
                {
                    "name": "Inwardly rectifying potassium channel 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Inwardly rectifying potassium channel 1, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Irk1-PF",
                    "type": "synonym"
                },
                {
                    "name": "drosophila inward rectifier",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irk1",
                    "type": "recommended"
                },
                {
                    "name": "CG13836",
                    "type": "synonym"
                },
                {
                    "name": "CG44159",
                    "type": "synonym"
                },
                {
                    "name": "CG6747",
                    "type": "synonym"
                },
                {
                    "name": "DIR",
                    "type": "synonym"
                },
                {
                    "name": "Dir",
                    "type": "synonym"
                },
                {
                    "name": "Dm_3R:100326",
                    "type": "synonym"
                },
                {
                    "name": "Dm_3R:100349",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44159",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44159",
                    "type": "synonym"
                },
                {
                    "name": "Irk1",
                    "type": "synonym"
                },
                {
                    "name": "Ir",
                    "type": "synonym"
                },
                {
                    "name": "Kir1",
                    "type": "synonym"
                },
                {
                    "name": "dIRK",
                    "type": "synonym"
                },
                {
                    "name": "dKirI",
                    "type": "synonym"
                },
                {
                    "name": "irk1",
                    "type": "synonym"
                },
                {
                    "name": "ir",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KH86-1",
            "evidence": [
                {
                    "id": "0110654",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110654"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110654"
}