{
    "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": []
}