{
    "disease_id": "DOID:0111260", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010395", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010395", 
            "name": "PRPS1 superactivity"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010395", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010395", 
            "name": "gout, PRPS-related"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010395", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010395", 
            "name": "PRPP synthetase superactivity"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111260", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111260", 
            "name": "PRPP synthetase superactivity"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111260", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111260", 
            "name": "PRPS1 superactivity"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111260", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111260", 
        "name": "phosphoribosylpyrophosphate synthetase superactivity"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111260#disease-associations", 
            "id": "0111260", 
            "database": "Alliance of Genome Resources"
        }
    ]
}