{
    "disease_id": "DOID:0060236",
    "recommended_name": {
        "id": "DOID:0060236",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060236",
        "name": "xanthinuria",
        "description": "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones."
    },
    "synonyms": [
        {
            "id": "DOID:0060236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060236",
            "name": "xanthine dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060236",
            "name": "xanthine oxidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060236",
            "name": "classic xanthinuria",
            "description": ""
        },
        {
            "id": "DOID:0060236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060236",
            "name": "hereditary xanthinuria",
            "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": "DOID:0070452",
            "label": "xanthinuria type I",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070453",
            "label": "xanthinuria type II",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070453",
        "DOID:0060236",
        "DOID:0070452"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060236",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060236",
            "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": "Q5SGK3-1",
            "uniprot_ac": "Q5SGK3",
            "uniprot_id": "AOXB_MOUSE",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "1.17.3.-",
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                {
                    "name": "1.2.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde oxidase homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Azaheterocycle hydroxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 3-like 1",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "azaheterocycle hydroxylase 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Aox2",
                    "type": "recommended"
                },
                {
                    "name": "Aoh3",
                    "type": "synonym"
                },
                {
                    "name": "Aox2",
                    "type": "synonym"
                },
                {
                    "name": "Aox3l1",
                    "type": "synonym"
                }
            ],
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                    "id": "0060236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060236"
                }
            ]
        },
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Aldehyde oxidase 3",
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                {
                    "name": "1.17.3.-",
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                    "name": "1.2.3.1",
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                },
                {
                    "name": "Aldehyde oxidase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Azaheterocycle hydroxylase 3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 3",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase structural homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "azaheterocycle hydroxylase 3",
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            ],
            "gene_names": [
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                    "name": "Aox3",
                    "type": "recommended"
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                {
                    "name": "1200011D03Rik",
                    "type": "synonym"
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                {
                    "name": "Aoh1",
                    "type": "synonym"
                },
                {
                    "name": "Aoh2",
                    "type": "synonym"
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                {
                    "name": "Aox3",
                    "type": "synonym"
                }
            ],
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                    "id": "0060236",
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            ]
        },
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            "uniprot_canonical_ac": "Q00519-1",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Xanthine dehydrogenase/oxidase",
                    "type": "recommended"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "Xanthine oxidoreductase",
                    "type": "synonym"
                },
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                    "name": "xanthine dehydrogenase/oxidase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine oxidase",
                    "type": "synonym"
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                    "name": "xanthine oxidoreductase",
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                }
            ],
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                    "name": "Xdh",
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                },
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                    "name": "XO",
                    "type": "synonym"
                },
                {
                    "name": "Xdh",
                    "type": "synonym"
                },
                {
                    "name": "Xor",
                    "type": "synonym"
                },
                {
                    "name": "Xox-1",
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                },
                {
                    "name": "Xox1",
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                }
            ],
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                    "id": "0060236",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060236"
                }
            ]
        },
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            "uniprot_canonical_ac": "O54754-1",
            "uniprot_ac": "O54754",
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            "refseq_ac": "NP_033806",
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                {
                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Aldehyde oxidase 1",
                    "type": "recommended"
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                {
                    "name": "1.17.3.-",
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                },
                {
                    "name": "1.2.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Azaheterocycle hydroxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "Retinal oxidase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "azaheterocycle hydroxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal oxidase",
                    "type": "synonym"
                }
            ],
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                    "name": "Aox1",
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                    "name": "Aox-1",
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                },
                {
                    "name": "Aox-2",
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                },
                {
                    "name": "Aox1",
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                },
                {
                    "name": "Aox2",
                    "type": "synonym"
                },
                {
                    "name": "Ao",
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                },
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                    "name": "Moro",
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                    "name": "Ro",
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                }
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                    "id": "0060236",
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            "uniprot_ac": "Q3TYQ9",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Aldehyde oxidase 4",
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                    "name": "Aldehyde oxidase homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Azaheterocycle hydroxylase 4",
                    "type": "synonym"
                },
                {
                    "name": "Retinal oxidase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 4",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase structural homolog 2",
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                },
                {
                    "name": "azaheterocycle hydroxylase 4",
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                {
                    "name": "retinal oxidase",
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                }
            ],
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                    "name": "Aox4",
                    "type": "recommended"
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                    "name": "2310003G12Rik",
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                },
                {
                    "name": "Aoh2",
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                    "name": "Aox4",
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                    "id": "0060236",
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        },
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            "uniprot_canonical_ac": "P47989-1",
            "uniprot_ac": "P47989",
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            "refseq_ac": "NP_000370",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Xanthine dehydrogenase/oxidase",
                    "type": "recommended"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "Xanthine oxidoreductase",
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                },
                {
                    "name": "xanthine dehydrogenase/oxidase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "xanthine dehydrogenase/oxidase",
                    "type": "synonym"
                },
                {
                    "name": "xanthine oxidoreductase",
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                }
            ],
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                    "name": "XDH",
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                    "name": "XAN1",
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                    "name": "XDH/XO",
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                {
                    "name": "XDHA",
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                {
                    "name": "XDH",
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                    "name": "XO",
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                    "id": "278300",
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                },
                {
                    "id": "0060236",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060236"
                }
            ]
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            "uniprot_canonical_ac": "Q5QE79-1",
            "uniprot_ac": "Q5QE79",
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                {
                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Aldehyde oxidase 4",
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                    "name": "1.17.3.-",
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                    "name": "1.2.3.1",
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                {
                    "name": "Aldehyde oxidase homolog 2",
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                },
                {
                    "name": "Azaheterocycle hydroxylase 4",
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                },
                {
                    "name": "Retinal oxidase",
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                }
            ],
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                    "name": "Aox3",
                    "type": "recommended"
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                {
                    "name": "Aox4",
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                    "name": "Aoh2",
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                {
                    "name": "Aox4",
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                    "id": "0060236",
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                    "name": "Rattus norvegicus",
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                    "name": "Aldehyde oxidase homolog 3",
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                {
                    "name": "Azaheterocycle hydroxylase 2",
                    "type": "synonym"
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                {
                    "name": "aldehyde oxidase 2 pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase 3-like 1",
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                {
                    "name": "aldehyde oxidase homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "azaheterocycle hydroxylase 2",
                    "type": "synonym"
                }
            ],
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                    "name": "Aox2",
                    "type": "recommended"
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                    "name": "Aoh3",
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                },
                {
                    "name": "Aox2p",
                    "type": "synonym"
                },
                {
                    "name": "Aox2",
                    "type": "synonym"
                },
                {
                    "name": "Aox3l1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060236"
                }
            ]
        },
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            "uniprot_canonical_ac": "P22985-1",
            "uniprot_ac": "P22985",
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                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Xanthine dehydrogenase/oxidase",
                    "type": "recommended"
                },
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                    "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"
                }
            ],
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                {
                    "name": "Xdh",
                    "type": "recommended"
                },
                {
                    "name": "XOR",
                    "type": "synonym"
                },
                {
                    "name": "Xdh",
                    "type": "synonym"
                }
            ],
            "record_id": "P22985-1",
            "evidence": [
                {
                    "id": "0060236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0U5-1",
            "uniprot_ac": "Q9Z0U5",
            "uniprot_id": "AOXA_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldehyde oxidase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.17.3.-",
                    "type": "synonym"
                },
                {
                    "name": "1.2.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Azaheterocycle hydroxylase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aox1",
                    "type": "recommended"
                },
                {
                    "name": "Ao",
                    "type": "synonym"
                }
            ],
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                    "id": "0060236",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060236"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0060236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06278-1",
            "uniprot_ac": "Q06278",
            "uniprot_id": "AOXA_HUMAN",
            "refseq_ac": "NP_001150",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aldehyde oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.17.3.-",
                    "type": "synonym"
                },
                {
                    "name": "1.2.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Aldehyde oxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Azaheterocycle hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "aldehyde oxidase",
                    "type": "synonym"
                },
                {
                    "name": "azaheterocycle hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AOX1",
                    "type": "recommended"
                },
                {
                    "name": "AOH1",
                    "type": "synonym"
                },
                {
                    "name": "AOX1",
                    "type": "synonym"
                },
                {
                    "name": "AO",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06278-1",
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                {
                    "id": "0060236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060236"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060236"
}