{
    "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": []
}