{
    "disease_id": "DOID:14218", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "hereditary thymine-uraciluria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "DYPD deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "familial pyrimidinaemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "thymine-Uraciluria, hereditary"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "thymine-uracilurea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "Dpyd deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "dihydrouracil dehydrogenase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "DPD deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "5-fluorouracil toxicity"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "pyrimidinemia, familial"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010130", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010130", 
            "name": "familial pyrimidinemia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14218", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14218", 
            "name": "Dihydrouracil Dehydrogenase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14218", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14218", 
            "name": "familial pyrimidinaemia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14218", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14218", 
            "name": "thymine-uracilurea"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:14218", 
        "description": "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.", 
        "resource": "Disease Ontology", 
        "id": "DOID:14218", 
        "name": "dihydropyrimidine dehydrogenase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/14218#disease-associations", 
            "id": "14218", 
            "database": "Alliance of Genome Resources"
        }
    ]
}