{
    "disease_id": "DOID:0060350",
    "recommended_name": {
        "id": "DOID:0060350",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060350",
        "name": "adenine phosphoribosyltransferase deficiency",
        "description": "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060350",
            "name": "2,8-dihydroxyadenine urolithiasis",
            "description": ""
        },
        {
            "id": "DOID:0060350",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060350",
            "name": "APRT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "adenine phosphoribosyltransferase deficiency",
            "description": "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy."
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "2,8-dihydroxyadenine urolithiasis",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "2,8-dihydroxyadeninuria disease",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "APRT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "adenine phosphoribosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "APRTD",
            "description": ""
        },
        {
            "id": "MONDO:0013869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013869",
            "name": "Dihydroxyadeninuria",
            "description": ""
        },
        {
            "id": "MIM:614723",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614723",
            "name": "Adenine phosphoribosyltransferase deficiency",
            "description": "Adenine phosphoribosyltransferase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060350"
    ],
    "unlinked_id_list": []
}