{
    "disease_id": "DOID:0112127",
    "recommended_name": {
        "id": "DOID:0112127",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0112127",
            "name": "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT deficiency, grade I",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT partial deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT-related gout",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT-related hyperuricemia",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112127",
            "name": "HPRT1 partial deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112127",
            "name": "Kelley-Seegmiller syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112127",
            "name": "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112127",
            "resource": "Disease Ontology",
            "url": "https://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": "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": [],
    "crossref": [
        {
            "id": "DOID:0112127",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112127",
            "categories": []
        },
        {
            "id": "MONDO:0010299",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010299",
            "categories": []
        },
        {
            "id": "MIM:300323",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300323",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P00493-1",
            "uniprot_ac": "P00493",
            "uniprot_id": "HPRT_MOUSE",
            "refseq_ac": "NP_038584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypoxanthine-guanine phosphoribosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.8",
                    "type": "synonym"
                },
                {
                    "name": "HGPRTase",
                    "type": "synonym"
                },
                {
                    "name": "HGPRT",
                    "type": "synonym"
                },
                {
                    "name": "HPRT A",
                    "type": "synonym"
                },
                {
                    "name": "HPRT B",
                    "type": "synonym"
                },
                {
                    "name": "hypoxanthine guanine phosphoribosyl transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "hypoxanthine-guanine phosphoribosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hprt1",
                    "type": "recommended"
                },
                {
                    "name": "HPGRT",
                    "type": "synonym"
                },
                {
                    "name": "Hprt1",
                    "type": "synonym"
                },
                {
                    "name": "Hprt",
                    "type": "synonym"
                }
            ],
            "record_id": "P00493-1",
            "evidence": [
                {
                    "id": "0112127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00492-1",
            "uniprot_ac": "P00492",
            "uniprot_id": "HPRT_HUMAN",
            "refseq_ac": "NP_000185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypoxanthine-guanine phosphoribosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.8",
                    "type": "synonym"
                },
                {
                    "name": "HGPRTase",
                    "type": "synonym"
                },
                {
                    "name": "HGPRT",
                    "type": "synonym"
                },
                {
                    "name": "hypoxanthine guanine phosphoribosyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "hypoxanthine-guanine phosphoribosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "hypoxanthine-guanine phosphoribosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 89",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPRT1",
                    "type": "recommended"
                },
                {
                    "name": "HGPRT",
                    "type": "synonym"
                },
                {
                    "name": "HPRT1",
                    "type": "synonym"
                },
                {
                    "name": "HPRT",
                    "type": "synonym"
                }
            ],
            "record_id": "P00492-1",
            "evidence": [
                {
                    "id": "300323",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300323"
                },
                {
                    "id": "0112127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27605-1",
            "uniprot_ac": "P27605",
            "uniprot_id": "HPRT_RAT",
            "refseq_ac": "NP_036715",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypoxanthine-guanine phosphoribosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.8",
                    "type": "synonym"
                },
                {
                    "name": "HGPRTase",
                    "type": "synonym"
                },
                {
                    "name": "HGPRT",
                    "type": "synonym"
                },
                {
                    "name": "hypoxanthine guanine phosphoribosyl transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "hypoxanthine phosphoribosyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "hypoxanthine-guanine phosphoribosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hprt1",
                    "type": "recommended"
                },
                {
                    "name": "Hgprtase",
                    "type": "synonym"
                },
                {
                    "name": "Hprt1",
                    "type": "synonym"
                },
                {
                    "name": "Hprt",
                    "type": "synonym"
                }
            ],
            "record_id": "P27605-1",
            "evidence": [
                {
                    "id": "0112127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112127"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112127"
}