{
    "disease_id": "DOID:0110142",
    "recommended_name": {
        "id": "DOID:0110142",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110142",
        "name": "Bartter disease type 1",
        "description": "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110142",
            "name": "hypokalemic alkalosis with hypercalciuria 1 antenatal",
            "description": ""
        },
        {
            "id": "DOID:0110142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110142",
            "name": "BARTS1",
            "description": ""
        },
        {
            "id": "DOID:0110142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110142",
            "name": "Bartter syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0110142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110142",
            "name": "Bartter syndrome type 1 antenatal",
            "description": ""
        },
        {
            "id": "DOID:0110142",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110142",
            "name": "hyperprostaglandin E syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "Bartter disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "Bartter syndrome, furosemide type",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "Bartter syndrome, furosemide-amiloride type",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "hyperprostaglandin E syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "BARTS1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "Bartter disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "Bartter syndrome caused by mutation in SLC12A1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "Bartter syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
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            "name": "Bartter syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "SLC12A1 Bartter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "hyperprostaglandin E syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "Bartter syndrome antenatal type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "antenatal Bartter syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100344",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "name": "hypokalemic alkalosis with hypercalciuria antenatal 1",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/601678",
            "name": "Bartter syndrome 1, antenatal",
            "description": "Bartter syndrome 1, antenatal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110142"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110142",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110142",
            "categories": []
        },
        {
            "id": "MONDO:0100344",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100344",
            "categories": []
        },
        {
            "id": "MIM:601678",
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            "url": "https://www.omim.org/entry/601678",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M9PFN1",
            "uniprot_id": "A0A8M9PFN1_DANRE",
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                    "name": "Danio rerio",
                    "taxid": 7955,
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Solute carrier family 12 member 1",
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                }
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                    "name": "slc12a1",
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                }
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                }
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "type": "synonym"
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                {
                    "name": "solute carrier family 12 member 1 isoform F",
                    "type": "synonym"
                }
            ],
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                    "name": "Slc12a1",
                    "type": "recommended"
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                {
                    "name": "D630042G03Rik",
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                },
                {
                    "name": "Nkcc2",
                    "type": "synonym"
                },
                {
                    "name": "Slc12a1",
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                    "name": "mBSC1",
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                {
                    "name": "mNKCC2",
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                    "name": "urehr3",
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                    "name": "Homo sapiens",
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            ],
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                    "name": "NKCC2",
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                    "name": "Na-K-2Cl cotransporter 2",
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                    "name": "Na-K-2Cl cotransporter",
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                {
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                    "type": "synonym"
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                    "name": "BSC1",
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                {
                    "name": "BSC",
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                    "name": "CCC2",
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                    "name": "NKCC2",
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                    "name": "SLC12A1",
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            ],
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        },
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            "refseq_ac": "",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
            ],
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                    "name": "Na-K-2Cl cotransporter 2",
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            ],
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                    "name": "Slc12a1",
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                    "name": "CG4357-PE",
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                {
                    "name": "Sodium chloride cotransporter 69, isoform E",
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                {
                    "name": "sodium chloride cotransporter 69, isoform E",
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    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110142"
}