{
    "disease_id": "DOID:0060350",
    "recommended_name": {
        "id": "DOID:0060350",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060350",
        "name": "adenine phosphoribosyltransferase deficiency",
        "description": "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060350",
            "name": "2,8-dihydroxyadenine urolithiasis",
            "description": ""
        },
        {
            "id": "DOID:0060350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060350",
            "name": "APRT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "adenine phosphoribosyltransferase deficiency",
            "description": "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy."
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "2,8-dihydroxyadenine urolithiasis",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "2,8-dihydroxyadeninuria disease",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "APRT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "adenine phosphoribosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "APRTD",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "Dihydroxyadeninuria",
            "description": ""
        },
        {
            "id": "MIM:614723",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614723",
            "name": "Adenine phosphoribosyltransferase deficiency",
            "description": "Adenine phosphoribosyltransferase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060350"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060350",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060350",
            "categories": []
        },
        {
            "id": "MONDO:0013869",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "categories": []
        },
        {
            "id": "MIM:614723",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614723",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P08030-1",
            "uniprot_ac": "P08030",
            "uniprot_id": "APT_MOUSE",
            "refseq_ac": "NP_033828",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenine phosphoribosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.7",
                    "type": "synonym"
                },
                {
                    "name": "APRT",
                    "type": "synonym"
                },
                {
                    "name": "adenine phosphoribosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aprt",
                    "type": "recommended"
                },
                {
                    "name": "Aprt",
                    "type": "synonym"
                }
            ],
            "record_id": "P08030-1",
            "evidence": [
                {
                    "id": "0060350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07741-1",
            "uniprot_ac": "P07741",
            "uniprot_id": "APT_HUMAN",
            "refseq_ac": "NP_000476",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenine phosphoribosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.7",
                    "type": "synonym"
                },
                {
                    "name": "AMP diphosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "AMP pyrophosphorylase",
                    "type": "synonym"
                },
                {
                    "name": "APRT",
                    "type": "synonym"
                },
                {
                    "name": "adenine phosphoribosyltransferase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "transphosphoribosidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APRT",
                    "type": "recommended"
                },
                {
                    "name": "AMP",
                    "type": "synonym"
                },
                {
                    "name": "APRTD",
                    "type": "synonym"
                },
                {
                    "name": "APRT",
                    "type": "synonym"
                }
            ],
            "record_id": "P07741-1",
            "evidence": [
                {
                    "id": "614723",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614723"
                },
                {
                    "id": "0060350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49435-1",
            "uniprot_ac": "P49435",
            "uniprot_id": "APT1_YEAST",
            "refseq_ac": "NP_013690",
            "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": "Adenine phosphoribosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.7",
                    "type": "synonym"
                },
                {
                    "name": "APRT 1",
                    "type": "synonym"
                },
                {
                    "name": "adenine phosphoribosyltransferase APT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APT1",
                    "type": "recommended"
                },
                {
                    "name": "APT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49435-1",
            "evidence": [
                {
                    "id": "0060350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36973-1",
            "uniprot_ac": "P36973",
            "uniprot_id": "APT2_YEAST",
            "refseq_ac": "NP_010729",
            "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": "Adenine phosphoribosyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.7",
                    "type": "synonym"
                },
                {
                    "name": "APRT 2",
                    "type": "synonym"
                },
                {
                    "name": "adenine phosphoribosyltransferase APT2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APT2",
                    "type": "recommended"
                },
                {
                    "name": "APT2",
                    "type": "synonym"
                },
                {
                    "name": "D9461.27",
                    "type": "synonym"
                }
            ],
            "record_id": "P36973-1",
            "evidence": [
                {
                    "id": "0060350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36972-1",
            "uniprot_ac": "P36972",
            "uniprot_id": "APT_RAT",
            "refseq_ac": "NP_001013079",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenine phosphoribosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.7",
                    "type": "synonym"
                },
                {
                    "name": "APRT",
                    "type": "synonym"
                },
                {
                    "name": "adenine phosphoribosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aprt",
                    "type": "recommended"
                },
                {
                    "name": "Galns",
                    "type": "recommended"
                },
                {
                    "name": "Aprt",
                    "type": "synonym"
                },
                {
                    "name": "Galns",
                    "type": "synonym"
                }
            ],
            "record_id": "P36972-1",
            "evidence": [
                {
                    "id": "0060350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12426-1",
            "uniprot_ac": "P12426",
            "uniprot_id": "APT_DROME",
            "refseq_ac": "NP_001286908",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenine phosphoribosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.7",
                    "type": "synonym"
                },
                {
                    "name": "APRT",
                    "type": "synonym"
                },
                {
                    "name": "Aprt-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG18315-PC",
                    "type": "synonym"
                },
                {
                    "name": "adenine phosphoribosyltransferase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "adenine phosphoribosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aprt",
                    "type": "recommended"
                },
                {
                    "name": "APRT",
                    "type": "synonym"
                },
                {
                    "name": "Aprt",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LP07986",
                    "type": "synonym"
                },
                {
                    "name": "CG18315",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18315",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18315",
                    "type": "synonym"
                },
                {
                    "name": "aprt",
                    "type": "synonym"
                }
            ],
            "record_id": "P12426-1",
            "evidence": [
                {
                    "id": "0060350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060350"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060350"
}