{
    "disease_id": "DOID:0070452",
    "recommended_name": {
        "id": "DOID:0070452",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070452",
        "name": "xanthinuria type I",
        "description": "A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0070452",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070452",
            "name": "XAN1",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "xanthinuria type I",
            "description": "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer."
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "XDH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "XO deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "XOR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "xanthine dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "xanthine oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "xanthine oxidoreductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "XAN1",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "isolated xanthine oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "xanthinuria type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "xanthinuria type I",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "xanthinuria, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "xanthinuria, type I",
            "description": ""
        },
        {
            "id": "MONDO:0010209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "name": "type 1 xanthinuria",
            "description": ""
        },
        {
            "id": "MIM:278300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/278300",
            "name": "Xanthinuria 1",
            "description": "Xanthinuria 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070452"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070452",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070452",
            "categories": []
        },
        {
            "id": "MONDO:0010209",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010209",
            "categories": []
        },
        {
            "id": "MIM:278300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/278300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F022-1",
            "uniprot_ac": "E7F022",
            "uniprot_id": "E7F022_DANRE",
            "refseq_ac": "XP_688983",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xanthine dehydrogenase/oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.17.1.4",
                    "type": "synonym"
                },
                {
                    "name": "1.17.3.2",
                    "type": "synonym"
                },
                {
                    "name": "xanthine dehydrogenase/oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "xdh",
                    "type": "recommended"
                },
                {
                    "name": "xdh",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F022-1",
            "evidence": [
                {
                    "id": "0070452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00519-1",
            "uniprot_ac": "Q00519",
            "uniprot_id": "XDH_MOUSE",
            "refseq_ac": "NP_035853",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xanthine dehydrogenase/oxidase",
                    "type": "recommended"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "Xanthine oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine dehydrogenase/oxidase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine oxidase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine oxidoreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xdh",
                    "type": "recommended"
                },
                {
                    "name": "XO",
                    "type": "synonym"
                },
                {
                    "name": "Xdh",
                    "type": "synonym"
                },
                {
                    "name": "Xor",
                    "type": "synonym"
                },
                {
                    "name": "Xox-1",
                    "type": "synonym"
                },
                {
                    "name": "Xox1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00519-1",
            "evidence": [
                {
                    "id": "0070452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47989-1",
            "uniprot_ac": "P47989",
            "uniprot_id": "XDH_HUMAN",
            "refseq_ac": "NP_000370",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xanthine dehydrogenase/oxidase",
                    "type": "recommended"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "Xanthine oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine dehydrogenase/oxidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "xanthine dehydrogenase/oxidase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine oxidoreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XDH",
                    "type": "recommended"
                },
                {
                    "name": "XAN1",
                    "type": "synonym"
                },
                {
                    "name": "XDH/XO",
                    "type": "synonym"
                },
                {
                    "name": "XDHA",
                    "type": "synonym"
                },
                {
                    "name": "XDH",
                    "type": "synonym"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "XO",
                    "type": "synonym"
                }
            ],
            "record_id": "P47989-1",
            "evidence": [
                {
                    "id": "278300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/278300"
                },
                {
                    "id": "0070452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22985-1",
            "uniprot_ac": "P22985",
            "uniprot_id": "XDH_RAT",
            "refseq_ac": "NP_058850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xanthine dehydrogenase/oxidase",
                    "type": "recommended"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "Xanthine oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine dehydrogenase/oxidase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine oxidase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine oxidoreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xdh",
                    "type": "recommended"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "Xdh",
                    "type": "synonym"
                }
            ],
            "record_id": "P22985-1",
            "evidence": [
                {
                    "id": "0070452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10351-1",
            "uniprot_ac": "P10351",
            "uniprot_id": "XDH_DROME",
            "refseq_ac": "NP_524337",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xanthine dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.17.1.4",
                    "type": "synonym"
                },
                {
                    "name": "CG7642-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein rosy locus",
                    "type": "synonym"
                },
                {
                    "name": "XD",
                    "type": "synonym"
                },
                {
                    "name": "rosy",
                    "type": "synonym"
                },
                {
                    "name": "ry-PA",
                    "type": "synonym"
                },
                {
                    "name": "xanthine DH",
                    "type": "synonym"
                },
                {
                    "name": "xanthine dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ry",
                    "type": "recommended"
                },
                {
                    "name": "CG7642",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7642",
                    "type": "synonym"
                },
                {
                    "name": "Ry",
                    "type": "synonym"
                },
                {
                    "name": "XDH",
                    "type": "synonym"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "Xdh/ry",
                    "type": "synonym"
                },
                {
                    "name": "Xdh",
                    "type": "synonym"
                },
                {
                    "name": "ry",
                    "type": "synonym"
                },
                {
                    "name": "xdh",
                    "type": "synonym"
                }
            ],
            "record_id": "P10351-1",
            "evidence": [
                {
                    "id": "0070452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070452"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070452"
}