{
    "disease_id": "DOID:0111629",
    "recommended_name": {
        "id": "DOID:0111629",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111629",
        "name": "dihydropyrimidinase deficiency",
        "description": "A pyrimidine metabolic disorder characterized by a defect in the degradation 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 the DPYS gene on chromosome 8q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111629",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111629",
            "name": "DPH deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111629",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111629",
            "name": "DPYS deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111629",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111629",
            "name": "DPYSD",
            "description": ""
        },
        {
            "id": "DOID:0111629",
            "resource": "Disease Ontology",
            "url": "https://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": "dihydropyrimidinase 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": "MIM:222748",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222748",
            "name": "Dihydropyrimidinase deficiency",
            "description": "Dihydropyrimidinase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111629"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111629",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111629",
            "categories": []
        },
        {
            "id": "MONDO:0009111",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009111",
            "categories": []
        },
        {
            "id": "MIM:222748",
            "database": "MIM",
            "url": "https://www.omim.org/entry/222748",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9EQF5-1",
            "uniprot_ac": "Q9EQF5",
            "uniprot_id": "DPYS_MOUSE",
            "refseq_ac": "NP_001157938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropyrimidinase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.2.2",
                    "type": "synonym"
                },
                {
                    "name": "DHPase",
                    "type": "synonym"
                },
                {
                    "name": "DHP",
                    "type": "synonym"
                },
                {
                    "name": "Dihydropyrimidine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Hydantoinase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidinase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hydantoinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpys",
                    "type": "recommended"
                },
                {
                    "name": "1200017I10Rik",
                    "type": "synonym"
                },
                {
                    "name": "1300004I01Rik",
                    "type": "synonym"
                },
                {
                    "name": "DHPase",
                    "type": "synonym"
                },
                {
                    "name": "DHP",
                    "type": "synonym"
                },
                {
                    "name": "Dpys",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQF5-1",
            "evidence": [
                {
                    "id": "0111629",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111629"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14117-1",
            "uniprot_ac": "Q14117",
            "uniprot_id": "DPYS_HUMAN",
            "refseq_ac": "NP_001376",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropyrimidinase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.2.2",
                    "type": "synonym"
                },
                {
                    "name": "DHPase",
                    "type": "synonym"
                },
                {
                    "name": "DHP",
                    "type": "synonym"
                },
                {
                    "name": "Dihydropyrimidine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Hydantoinase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidinase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hydantoinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPYS",
                    "type": "recommended"
                },
                {
                    "name": "DHPase",
                    "type": "synonym"
                },
                {
                    "name": "DHP",
                    "type": "synonym"
                },
                {
                    "name": "DPYS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14117-1",
            "evidence": [
                {
                    "id": "222748",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/222748"
                },
                {
                    "id": "0111629",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111629"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32375-1",
            "uniprot_ac": "P32375",
            "uniprot_id": "ALN_YEAST",
            "refseq_ac": "NP_012293",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Allantoinase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.2.5",
                    "type": "synonym"
                },
                {
                    "name": "allantoinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAL1",
                    "type": "recommended"
                },
                {
                    "name": "DAL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32375-1",
            "evidence": [
                {
                    "id": "0111629",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111629"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63150-1",
            "uniprot_ac": "Q63150",
            "uniprot_id": "DPYS_RAT",
            "refseq_ac": "NP_113893",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydropyrimidinase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.2.2",
                    "type": "synonym"
                },
                {
                    "name": "DHPase",
                    "type": "synonym"
                },
                {
                    "name": "DHP",
                    "type": "synonym"
                },
                {
                    "name": "Dihydropyrimidine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Hydantoinase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidinase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidine amidohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hydantoinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dpys",
                    "type": "recommended"
                },
                {
                    "name": "DHP",
                    "type": "synonym"
                },
                {
                    "name": "Dpys",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63150-1",
            "evidence": [
                {
                    "id": "0111629",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111629"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPQ2-1",
            "uniprot_ac": "Q8IPQ2",
            "uniprot_id": "Q8IPQ2_DROME",
            "refseq_ac": "NP_730954",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "dihydropyrimidinase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.2.2",
                    "type": "synonym"
                },
                {
                    "name": "CG1411-PE",
                    "type": "synonym"
                },
                {
                    "name": "CRMP-PE",
                    "type": "synonym"
                },
                {
                    "name": "collapsin response mediating protein",
                    "type": "synonym"
                },
                {
                    "name": "collapsin response mediator protein, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "collapsin response mediator protein",
                    "type": "synonym"
                },
                {
                    "name": "collapsing response mediator protein",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidinase",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyrimidine amidohydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRMP",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:HL02693",
                    "type": "synonym"
                },
                {
                    "name": "CG1411",
                    "type": "synonym"
                },
                {
                    "name": "CRMP",
                    "type": "synonym"
                },
                {
                    "name": "DHP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1411",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1411",
                    "type": "synonym"
                },
                {
                    "name": "EP(3)3238",
                    "type": "synonym"
                },
                {
                    "name": "EP3238",
                    "type": "synonym"
                },
                {
                    "name": "Pyd2",
                    "type": "synonym"
                },
                {
                    "name": "crmp",
                    "type": "synonym"
                },
                {
                    "name": "l(3)83Ba",
                    "type": "synonym"
                },
                {
                    "name": "pyd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPQ2-1",
            "evidence": [
                {
                    "id": "0111629",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111629"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111629"
}