{
    "disease_id": "DOID:0111260",
    "recommended_name": {
        "id": "DOID:0111260",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111260",
        "name": "phosphoribosylpyrophosphate synthetase superactivity",
        "description": "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset."
    },
    "synonyms": [
        {
            "id": "DOID:0111260",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111260",
            "name": "PRPP synthetase superactivity",
            "description": ""
        },
        {
            "id": "DOID:0111260",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111260",
            "name": "PRPS1 superactivity",
            "description": ""
        },
        {
            "id": "MONDO:0010395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010395",
            "name": "phosphoribosylpyrophosphate synthetase superactivity",
            "description": "Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)."
        },
        {
            "id": "MONDO:0010395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010395",
            "name": "PRPP synthetase superactivity",
            "description": ""
        },
        {
            "id": "MONDO:0010395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010395",
            "name": "PRPS1 superactivity",
            "description": ""
        },
        {
            "id": "MONDO:0010395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010395",
            "name": "gout, PRPS-related, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010395",
            "name": "phosphoribosylpyrophosphate synthetase superactivity",
            "description": ""
        },
        {
            "id": "MONDO:0010395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010395",
            "name": "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010395",
            "name": "gout, PRPS-related",
            "description": ""
        },
        {
            "id": "MIM:300661",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300661",
            "name": "Phosphoribosylpyrophosphate synthetase superactivity",
            "description": "Phosphoribosylpyrophosphate synthetase superactivity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111260"
    ],
    "unlinked_id_list": []
}