{
    "disease_id": "DOID:0111260",
    "recommended_name": {
        "id": "DOID:0111260",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0111260",
            "name": "PRPP synthetase superactivity",
            "description": ""
        },
        {
            "id": "DOID:0111260",
            "resource": "Disease Ontology",
            "url": "https://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": "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": [],
    "crossref": [
        {
            "id": "DOID:0111260",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111260",
            "categories": []
        },
        {
            "id": "MONDO:0010395",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010395",
            "categories": []
        },
        {
            "id": "MIM:300661",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300661",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "G3UXL2-1",
            "uniprot_ac": "G3UXL2",
            "uniprot_id": "G3UXL2_MOUSE",
            "refseq_ac": "NP_001032835",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prps1l3",
                    "type": "recommended"
                },
                {
                    "name": "328099",
                    "type": "synonym"
                },
                {
                    "name": "AU021838",
                    "type": "synonym"
                },
                {
                    "name": "AW536152",
                    "type": "synonym"
                },
                {
                    "name": "Gm5081",
                    "type": "synonym"
                },
                {
                    "name": "Prps1l3",
                    "type": "synonym"
                }
            ],
            "record_id": "G3UXL2-1",
            "evidence": [
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D7G0-1",
            "uniprot_ac": "Q9D7G0",
            "uniprot_id": "PRPS1_MOUSE",
            "refseq_ac": "NP_067438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthetase I",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prps1",
                    "type": "recommended"
                },
                {
                    "name": "2310010D17Rik",
                    "type": "synonym"
                },
                {
                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "Prps-1",
                    "type": "synonym"
                },
                {
                    "name": "Prps1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D7G0-1",
            "evidence": [
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60891-1",
            "uniprot_ac": "P60891",
            "uniprot_id": "PRPS1_HUMAN",
            "refseq_ac": "NP_001191331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "PPRibP",
                    "type": "synonym"
                },
                {
                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)",
                    "type": "synonym"
                },
                {
                    "name": "deafness 2, perceptive, congenital",
                    "type": "synonym"
                },
                {
                    "name": "deafness, X-linked 2, perceptive, congenital",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate diphosphokinase 1",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPS1",
                    "type": "recommended"
                },
                {
                    "name": "ARTS",
                    "type": "synonym"
                },
                {
                    "name": "CMTX5",
                    "type": "synonym"
                },
                {
                    "name": "DFN2",
                    "type": "synonym"
                },
                {
                    "name": "DFNX1",
                    "type": "synonym"
                },
                {
                    "name": "PPRibP",
                    "type": "synonym"
                },
                {
                    "name": "PRPS1",
                    "type": "synonym"
                },
                {
                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "PRSI",
                    "type": "synonym"
                }
            ],
            "record_id": "P60891-1",
            "evidence": [
                {
                    "id": "300661",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300661"
                },
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38689-1",
            "uniprot_ac": "P38689",
            "uniprot_id": "KPR3_YEAST",
            "refseq_ac": "NP_011852",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "ribose phosphate diphosphokinase subunit PRS3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRS3",
                    "type": "recommended"
                },
                {
                    "name": "PRPS3",
                    "type": "synonym"
                },
                {
                    "name": "PRS3",
                    "type": "synonym"
                }
            ],
            "record_id": "P38689-1",
            "evidence": [
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38063-1",
            "uniprot_ac": "P38063",
            "uniprot_id": "KPR4_YEAST",
            "refseq_ac": "NP_009485",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "ribose phosphate diphosphokinase subunit PRS4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRS4",
                    "type": "recommended"
                },
                {
                    "name": "PRPS4",
                    "type": "synonym"
                },
                {
                    "name": "PRS4",
                    "type": "synonym"
                },
                {
                    "name": "YBL0619",
                    "type": "synonym"
                }
            ],
            "record_id": "P38063-1",
            "evidence": [
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38620-1",
            "uniprot_ac": "P38620",
            "uniprot_id": "KPR2_YEAST",
            "refseq_ac": "NP_011025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "ribose phosphate diphosphokinase subunit PRS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRS2",
                    "type": "recommended"
                },
                {
                    "name": "PRPS2",
                    "type": "synonym"
                },
                {
                    "name": "PRS2",
                    "type": "synonym"
                },
                {
                    "name": "PRS",
                    "type": "synonym"
                }
            ],
            "record_id": "P38620-1",
            "evidence": [
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09330-1",
            "uniprot_ac": "P09330",
            "uniprot_id": "PRPS2_RAT",
            "refseq_ac": "NP_036766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "PRS-II",
                    "type": "synonym"
                },
                {
                    "name": "Phophoribosylpyrophosphate synthetase, subunit II",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase II",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase II",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthetase II",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 2-like",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prps1l1",
                    "type": "recommended"
                },
                {
                    "name": "Prps1l3",
                    "type": "recommended"
                },
                {
                    "name": "Prps1",
                    "type": "recommended"
                },
                {
                    "name": "Prps2",
                    "type": "recommended"
                },
                {
                    "name": "Prps1l1",
                    "type": "synonym"
                },
                {
                    "name": "Prps1l3",
                    "type": "synonym"
                },
                {
                    "name": "Prps2",
                    "type": "synonym"
                }
            ],
            "record_id": "P09330-1",
            "evidence": [
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60892-1",
            "uniprot_ac": "P60892",
            "uniprot_id": "PRPS1_RAT",
            "refseq_ac": "NP_058939",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribose-phosphate pyrophosphokinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "PRS-I",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthase I",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthetase I",
                    "type": "synonym"
                },
                {
                    "name": "ribose-phosphate pyrophosphokinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prps1",
                    "type": "recommended"
                },
                {
                    "name": "Prps1",
                    "type": "synonym"
                }
            ],
            "record_id": "P60892-1",
            "evidence": [
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VT33-1",
            "uniprot_ac": "Q9VT33",
            "uniprot_id": "Q9VT33_DROME",
            "refseq_ac": "NP_729528",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ribose-phosphate diphosphokinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.6.1",
                    "type": "synonym"
                },
                {
                    "name": "CG6767-PB",
                    "type": "synonym"
                },
                {
                    "name": "Prps-PB",
                    "type": "synonym"
                },
                {
                    "name": "phosphoribosyl pyrophosphate synthetase, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prps",
                    "type": "recommended"
                },
                {
                    "name": "CG6767",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6767",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6767",
                    "type": "synonym"
                },
                {
                    "name": "PRPS",
                    "type": "synonym"
                },
                {
                    "name": "Prps",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VT33-1",
            "evidence": [
                {
                    "id": "0111260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111260"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111260"
}