{
    "disease_id": "DOID:0050450",
    "recommended_name": {
        "id": "DOID:0050450",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050450",
        "name": "Gitelman syndrome",
        "description": "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting)."
    },
    "synonyms": [
        {
            "id": "DOID:0050450",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050450",
            "name": "HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA",
            "description": ""
        },
        {
            "id": "MONDO:0009904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009904",
            "name": "Gitelman syndrome",
            "description": "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion."
        },
        {
            "id": "MONDO:0009904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009904",
            "name": "Gitelman syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009904",
            "name": "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria",
            "description": ""
        },
        {
            "id": "MONDO:0009904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009904",
            "name": "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria",
            "description": ""
        },
        {
            "id": "MONDO:0009904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009904",
            "name": "GTLMNS",
            "description": ""
        },
        {
            "id": "MONDO:0009904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009904",
            "name": "Gitelman's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009904",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009904",
            "name": "familial hypokalemia-hypomagnesemia",
            "description": ""
        },
        {
            "id": "MIM:263800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/263800",
            "name": "Gitelman syndrome",
            "description": "Gitelman syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050450"
    ],
    "unlinked_id_list": []
}