{
    "disease_id": "DOID:0112127",
    "recommended_name": {
        "id": "DOID:0112127",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112127",
        "name": "HRPT-related hyperuricemia",
        "description": "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT deficiency, grade I",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT partial deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT-related gout",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT-related hyperuricemia",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT1 partial deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "Kelley-Seegmiller syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112127",
            "name": "hypoxanthine guanine phosphoribosyltransferase partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "hypoxanthine guanine phosphoribosyltransferase partial deficiency",
            "description": "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout."
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "HPRT deficiency, grade I",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "HPRT partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "HPRT-related gout",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "HPRT-related hyperuricemia",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "HPRT1 partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "Kelley-Seegmiller syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "hyperuricemia, HRPT-related, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "HPRT deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "Hprt1 deficiency, partial",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "KELLEY-Seegmiller syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "gout, HPRT-related",
            "description": ""
        },
        {
            "id": "MONDO:0010299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "name": "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial",
            "description": ""
        },
        {
            "id": "MIM:300323",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300323",
            "name": "Hyperuricemia, HPRT-related",
            "description": "Hyperuricemia, HPRT-related"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112127"
    ],
    "unlinked_id_list": []
}