{
    "disease_id": "DOID:0111798",
    "recommended_name": {
        "id": "DOID:0111798",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111798",
        "name": "X-linked nephrolithiasis type I",
        "description": "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0111798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111798",
            "name": "NPHL1",
            "description": ""
        },
        {
            "id": "DOID:0111798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111798",
            "name": "X-linked nephrolithiasis with renal failure",
            "description": ""
        },
        {
            "id": "DOID:0111798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111798",
            "name": "X-linked recessive urolithiasis type 1",
            "description": ""
        },
        {
            "id": "DOID:0111798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111798",
            "name": "XRN",
            "description": ""
        },
        {
            "id": "DOID:0111798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111798",
            "name": "nephrolithiasis 1",
            "description": ""
        },
        {
            "id": "DOID:0111798",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111798",
            "name": "nephrolithiasis X-linked recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010687",
            "name": "nephrolithiasis, X-linked recessive, with renal failure",
            "description": ""
        },
        {
            "id": "MONDO:0010687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010687",
            "name": "nephrolithiasis, X-linked recessive, with renal failure",
            "description": ""
        },
        {
            "id": "MONDO:0010687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010687",
            "name": "nephrolithiasis, type i, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010687",
            "name": "XRN",
            "description": ""
        },
        {
            "id": "MIM:310468",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310468",
            "name": "Nephrolithiasis, X-linked recessive, with renal failure",
            "description": "Nephrolithiasis, X-linked recessive, with renal failure"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111798"
    ],
    "unlinked_id_list": []
}