{
    "disease_id": "DOID:0110143",
    "recommended_name": {
        "id": "DOID:0110143",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110143",
        "name": "Bartter disease type 2",
        "description": "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110143",
            "name": "BARTS2",
            "description": ""
        },
        {
            "id": "DOID:0110143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110143",
            "name": "Bartter syndrome type 2",
            "description": ""
        },
        {
            "id": "DOID:0110143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110143",
            "name": "Bartter syndrome type 2 antenatal",
            "description": ""
        },
        {
            "id": "DOID:0110143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110143",
            "name": "hypokalemic alkalosis with hypercalciuria 2 antenatal",
            "description": ""
        },
        {
            "id": "DOID:0110143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110143",
            "name": "hyperprostaglandin E syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "Bartter disease type 2",
            "description": "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene."
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "BARTS2",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "Bartter disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "Bartter syndrome caused by mutation in KCNJ1",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "Bartter syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "Bartter syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "KCNJ1 Bartter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "hyperprostaglandin E syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "Bartter syndrome antenatal type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "name": "hypokalemic alkalosis with hypercalciuria antenatal 2",
            "description": ""
        },
        {
            "id": "MIM:241200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/241200",
            "name": "Bartter syndrome 2, antenatal",
            "description": "Bartter syndrome 2, antenatal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110143"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110143",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110143",
            "categories": []
        },
        {
            "id": "MONDO:0009424",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009424",
            "categories": []
        },
        {
            "id": "MIM:241200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/241200",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q1LUW9-1",
            "uniprot_ac": "Q1LUW9",
            "uniprot_id": "Q1LUW9_DANRE",
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            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC569191",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC569191",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj1a.4",
                    "type": "recommended"
                },
                {
                    "name": "kcnj1a.4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-244h7.5",
                    "type": "synonym"
                }
            ],
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                    "id": "0110143",
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                }
            ]
        },
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                }
            ],
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                {
                    "name": "Uncharacterized protein LOC569137",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC569137",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj1a.3",
                    "type": "recommended"
                },
                {
                    "name": "kcnj1a.3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-244h7.4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110143",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1L8I5-1",
            "uniprot_ac": "Q1L8I5",
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Uncharacterized protein LOC541499",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC541499",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj1a.2",
                    "type": "recommended"
                },
                {
                    "name": "kcnj1a.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113361",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8I5-1",
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                {
                    "id": "0110143",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58HSR8-1",
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            "refseq_ac": "XP_073785035",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "ATP-sensitive inward rectifier potassium channel 1a.1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnj1a.1",
                    "type": "recommended"
                },
                {
                    "name": "kcnj1a.1",
                    "type": "synonym"
                },
                {
                    "name": "kcnj1",
                    "type": "synonym"
                },
                {
                    "name": "romk2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl37c05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63534",
                    "type": "synonym"
                }
            ],
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                    "id": "0110143",
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                }
            ]
        },
        {
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            "uniprot_ac": "Q1L8I9",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Potassium inwardly rectifying channel subfamily J member 1a, tandem duplicate 6 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "potassium inwardly rectifying channel subfamily J member 1a, tandem duplicate 6",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kcnj1a.6",
                    "type": "recommended"
                },
                {
                    "name": "kcnj1a.6",
                    "type": "synonym"
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                {
                    "name": "si:ch211-241l24.7",
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                },
                {
                    "name": "si:ch211-244h7.8",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110143",
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            ]
        },
        {
            "uniprot_canonical_ac": "O88335-1",
            "uniprot_ac": "O88335",
            "uniprot_id": "KCNJ1_MOUSE",
            "refseq_ac": "NP_062633",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 1",
                    "type": "recommended"
                },
                {
                    "name": "ATP-regulated potassium channel ROM-K",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir1.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir1.1",
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                {
                    "name": "inwardly rectifying potassium channel ROMK-2",
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                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 1",
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            ],
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                    "name": "Kcnj1",
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                    "id": "0110143",
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            "uniprot_canonical_ac": "P48048-1",
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "ATP-sensitive inward rectifier potassium channel 1",
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                {
                    "name": "Inward rectifier K(+) channel Kir1.1",
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                {
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                    "name": "inward rectifier K(+) channel Kir1.1",
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                {
                    "name": "inwardly rectifying K+ channel",
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                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 1",
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                {
                    "name": "potassium voltage-gated channel subfamily J member 1",
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            ],
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                    "name": "KCNJ1",
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                    "name": "KCNJ1",
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                },
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                    "name": "KIR1.1",
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                    "name": "ROMK1",
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                    "id": "0110143",
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            "uniprot_canonical_ac": "P35560-1",
            "uniprot_ac": "P35560",
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            "refseq_ac": "",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "ATP-sensitive inward rectifier potassium channel 1",
                    "type": "recommended"
                },
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                    "name": "ATP-regulated potassium channel ROM-K",
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                {
                    "name": "Inward rectifier K(+) channel Kir1.1",
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                    "name": "KAB-1",
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                    "name": "Potassium channel, inwardly rectifying subfamily J member 1",
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                }
            ],
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                    "name": "Kcnj1",
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                    "id": "0110143",
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            "uniprot_canonical_ac": "B7YZX2-1",
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            "uniprot_id": "B7YZX2_DROME",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
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                }
            ],
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                {
                    "name": "CG10369-PD",
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                {
                    "name": "Inwardly rectifying potassium channel 3, isoform D",
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                    "name": "Irk3-PD",
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                    "name": "inwardly rectifying potassium channel 3, isoform D",
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                    "name": "Irk3",
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                    "name": "CG10369",
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                    "name": "Dmel\\CG10369",
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                    "name": "Dmel_CG10369",
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                    "name": "dIRK-3",
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                    "name": "dKirIII",
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                    "id": "0110143",
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                    "name": "Homo sapiens",
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                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyribonuclease-1-like 1",
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                    "name": "3.1.21.-",
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                {
                    "name": "DNase I, lysosomal-like",
                    "type": "synonym"
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                {
                    "name": "DNase I-like 1",
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                },
                {
                    "name": "DNase I-like, muscle-specific",
                    "type": "synonym"
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                {
                    "name": "DNase X",
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                {
                    "name": "Deoxyribonuclease I-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific DNase I-like",
                    "type": "synonym"
                },
                {
                    "name": "XIB",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease I-like 1",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease-1-like 1 precursor",
                    "type": "synonym"
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            ],
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                {
                    "name": "DNASE1L1",
                    "type": "recommended"
                },
                {
                    "name": "DNAS1L1",
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                },
                {
                    "name": "DNASE1L1",
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                {
                    "name": "DNASEX",
                    "type": "synonym"
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                {
                    "name": "DNL1L",
                    "type": "synonym"
                },
                {
                    "name": "G4.8",
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                    "name": "XIB",
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                    "id": "0110143",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110143"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110143"
}