{
    "disease_id": "DOID:0050434",
    "recommended_name": {
        "id": "DOID:0050434",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050434",
        "name": "Andersen-Tawil syndrome",
        "description": "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly."
    },
    "synonyms": [
        {
            "id": "DOID:0050434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050434",
            "name": "ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS",
            "description": ""
        },
        {
            "id": "DOID:0050434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050434",
            "name": "Andersen syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050434",
            "name": "LQT7",
            "description": ""
        },
        {
            "id": "DOID:0050434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050434",
            "name": "Long QT syndrome 7",
            "description": ""
        },
        {
            "id": "DOID:0050434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050434",
            "name": "Potassium-Sensitive Cardiodysrhythmic Type",
            "description": ""
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "Andersen-Tawil syndrome",
            "description": "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly."
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "ATS",
            "description": ""
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "Andersen cardiodysrhythmic periodic paralysis",
            "description": ""
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "Andersen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "Andersen-Tawil syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "LQT7",
            "description": ""
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "long QT syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "long QT syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0008222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "name": "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features",
            "description": ""
        },
        {
            "id": "MIM:170390",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/170390",
            "name": "Long QT syndrome 7",
            "description": "Long QT syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050434"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050434",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050434",
            "categories": []
        },
        {
            "id": "MONDO:0008222",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008222",
            "categories": []
        },
        {
            "id": "MIM:170390",
            "database": "MIM",
            "url": "https://www.omim.org/entry/170390",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35561-1",
            "uniprot_ac": "P35561",
            "uniprot_id": "KCNJ2_MOUSE",
            "refseq_ac": "NP_032451",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 2",
                    "type": "recommended"
                },
                {
                    "name": "IRK-1",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj2",
                    "type": "recommended"
                },
                {
                    "name": "IRK1",
                    "type": "synonym"
                },
                {
                    "name": "Irk1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnf1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj2",
                    "type": "synonym"
                },
                {
                    "name": "Kir2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35561-1",
            "evidence": [
                {
                    "id": "0050434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63252-1",
            "uniprot_ac": "P63252",
            "uniprot_id": "KCNJ2_HUMAN",
            "refseq_ac": "NP_000882",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 2",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac inward rectifier potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "IRK-1",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                },
                {
                    "name": "cardiac inward rectifier potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "hIRK1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K+ channel KIR2.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ2",
                    "type": "recommended"
                },
                {
                    "name": "ATFB9",
                    "type": "synonym"
                },
                {
                    "name": "HHBIRK1",
                    "type": "synonym"
                },
                {
                    "name": "HHIRK1",
                    "type": "synonym"
                },
                {
                    "name": "IRK1",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ2",
                    "type": "synonym"
                },
                {
                    "name": "KIR2.1",
                    "type": "synonym"
                },
                {
                    "name": "LQT7",
                    "type": "synonym"
                },
                {
                    "name": "SQT3",
                    "type": "synonym"
                }
            ],
            "record_id": "P63252-1",
            "evidence": [
                {
                    "id": "170390",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/170390"
                },
                {
                    "id": "0050434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64273-1",
            "uniprot_ac": "Q64273",
            "uniprot_id": "KCNJ2_RAT",
            "refseq_ac": "NP_058992",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 2",
                    "type": "recommended"
                },
                {
                    "name": "IRK-1",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                },
                {
                    "name": "RBL-IRK1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj2",
                    "type": "recommended"
                },
                {
                    "name": "Irk1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj2",
                    "type": "synonym"
                },
                {
                    "name": "Kir2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64273-1",
            "evidence": [
                {
                    "id": "0050434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LHI9-1",
            "uniprot_ac": "A0A0B4LHI9",
            "uniprot_id": "A0A0B4LHI9_DROME",
            "refseq_ac": "NP_001287485",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4370-PD",
                    "type": "synonym"
                },
                {
                    "name": "Inwardly rectifying potassium channel 2, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Irk2-PD",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel 2, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irk2",
                    "type": "recommended"
                },
                {
                    "name": "CG10180",
                    "type": "synonym"
                },
                {
                    "name": "CG4370",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4370",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4370",
                    "type": "synonym"
                },
                {
                    "name": "Irk2",
                    "type": "synonym"
                },
                {
                    "name": "Kir2",
                    "type": "synonym"
                },
                {
                    "name": "dIRK-2",
                    "type": "synonym"
                },
                {
                    "name": "dKirII",
                    "type": "synonym"
                },
                {
                    "name": "dKir",
                    "type": "synonym"
                },
                {
                    "name": "irk2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4LHI9-1",
            "evidence": [
                {
                    "id": "0050434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050434"
                }
            ]
        },
        {
            "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": "0050434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050434"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050434"
}