{
    "disease_id": "DOID:0111629",
    "recommended_name": {
        "id": "DOID:0111629",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111629",
        "name": "dihydropyrimidinase deficiency",
        "description": "A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111629",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111629",
            "name": "DPH deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111629",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111629",
            "name": "DPYS deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111629",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111629",
            "name": "DPYSD",
            "description": ""
        },
        {
            "id": "DOID:0111629",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111629",
            "name": "dihydropyrimidinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009111",
            "name": "dihydropyrimidinuria",
            "description": "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity."
        },
        {
            "id": "MONDO:0009111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009111",
            "name": "Dpys deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009111",
            "name": "dihydropyrimidinase deficiency; DPYSD",
            "description": ""
        },
        {
            "id": "MONDO:0009111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009111",
            "name": "Dph deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009111",
            "name": "dihydropyrimidinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009111",
            "name": "DPYSD",
            "description": ""
        },
        {
            "id": "MONDO:0009111",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009111",
            "name": "dihydropyrimidinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:222748",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222748",
            "name": "Dihydropyrimidinase deficiency",
            "description": "Dihydropyrimidinase deficiency"
        }
    ]
}