{
    "disease_id": "DOID:0070453",
    "recommended_name": {
        "id": "DOID:0070453",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070453",
        "name": "xanthinuria type II",
        "description": "A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070453",
            "name": "XAN2",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthinuria type II",
            "description": "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic."
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "XAN2",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "XDH and AOX dual deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "type 2 xanthinuria",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "type II xanthinuria",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthine dehydrogenase and aldehyde oxidase combined deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthinuria type 2",
            "description": ""
        },
        {
            "id": "MIM:603592",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603592",
            "name": "Xanthinuria 2",
            "description": "Xanthinuria 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070453"
    ],
    "unlinked_id_list": []
}