{
    "disease_id": "DOID:0111258",
    "recommended_name": {
        "id": "DOID:0111258",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111258",
        "name": "pentosuria",
        "description": "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111258",
            "name": "L-xylulose reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111258",
            "name": "L-xylulosuria",
            "description": ""
        },
        {
            "id": "DOID:0111258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111258",
            "name": "PNTSU",
            "description": ""
        },
        {
            "id": "DOID:0111258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111258",
            "name": "essential pentosuria",
            "description": ""
        },
        {
            "id": "DOID:0111258",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111258",
            "name": "xylitol dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009846",
            "name": "pentosuria",
            "description": "Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day."
        },
        {
            "id": "MONDO:0009846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009846",
            "name": "essential pentosuria",
            "description": ""
        },
        {
            "id": "MONDO:0009846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009846",
            "name": "pentosuria",
            "description": ""
        },
        {
            "id": "MONDO:0009846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009846",
            "name": "xylitol dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009846",
            "name": "PNTSU",
            "description": ""
        },
        {
            "id": "MIM:260800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260800",
            "name": "Pentosuria",
            "description": "Pentosuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111258"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111258",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111258",
            "categories": []
        },
        {
            "id": "MONDO:0009846",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009846",
            "categories": []
        },
        {
            "id": "MIM:260800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/260800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U0U0-1",
            "uniprot_ac": "A0AB32U0U0",
            "uniprot_id": "A0AB32U0U0_DANRE",
            "refseq_ac": "NP_001017619",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-xylulose reductase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "L-xylulose reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dcxr",
                    "type": "recommended"
                },
                {
                    "name": "dcxr",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa12f09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111977",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U0U0-1",
            "evidence": [
                {
                    "id": "0111258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91X52-1",
            "uniprot_ac": "Q91X52",
            "uniprot_id": "DCXR_MOUSE",
            "refseq_ac": "NP_080704",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-xylulose reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "DCXR",
                    "type": "synonym"
                },
                {
                    "name": "Dicarbonyl/L-xylulose reductase",
                    "type": "synonym"
                },
                {
                    "name": "L-xylulose reductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "XR",
                    "type": "synonym"
                },
                {
                    "name": "diacetyl/L-xylulose reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dcxr",
                    "type": "recommended"
                },
                {
                    "name": "0610038K04Rik",
                    "type": "synonym"
                },
                {
                    "name": "1810027P18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dcxr",
                    "type": "synonym"
                },
                {
                    "name": "XR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X52-1",
            "evidence": [
                {
                    "id": "0111258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z4W1-1",
            "uniprot_ac": "Q7Z4W1",
            "uniprot_id": "DCXR_HUMAN",
            "refseq_ac": "NP_001182147",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-xylulose reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "DCXR",
                    "type": "synonym"
                },
                {
                    "name": "Dicarbonyl/L-xylulose reductase",
                    "type": "synonym"
                },
                {
                    "name": "Kidney dicarbonyl reductase",
                    "type": "synonym"
                },
                {
                    "name": "L-xylulose reductase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 20C member 1",
                    "type": "synonym"
                },
                {
                    "name": "Sperm surface protein P34H",
                    "type": "synonym"
                },
                {
                    "name": "XR",
                    "type": "synonym"
                },
                {
                    "name": "carbonyl reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "carbonyl reductase II",
                    "type": "synonym"
                },
                {
                    "name": "dicarbonyl/L-xylulose reductase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "human carbonyl reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "kiDCR",
                    "type": "synonym"
                },
                {
                    "name": "kidney dicarbonyl reductase",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 20C member 1",
                    "type": "synonym"
                },
                {
                    "name": "sperm surface protein P34H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCXR",
                    "type": "recommended"
                },
                {
                    "name": "DCR",
                    "type": "synonym"
                },
                {
                    "name": "DCXR",
                    "type": "synonym"
                },
                {
                    "name": "HCR2",
                    "type": "synonym"
                },
                {
                    "name": "HCRII",
                    "type": "synonym"
                },
                {
                    "name": "KIDCR",
                    "type": "synonym"
                },
                {
                    "name": "P34H",
                    "type": "synonym"
                },
                {
                    "name": "PNTSU",
                    "type": "synonym"
                },
                {
                    "name": "SDR20C1",
                    "type": "synonym"
                },
                {
                    "name": "XR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z4W1-1",
            "evidence": [
                {
                    "id": "260800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/260800"
                },
                {
                    "id": "0111258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M239-1",
            "uniprot_ac": "A0ABK0M239",
            "uniprot_id": "A0ABK0M239_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-xylulose reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.10",
                    "type": "synonym"
                },
                {
                    "name": "Dicarbonyl/L-xylulose reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dcxr",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M239-1",
            "evidence": [
                {
                    "id": "0111258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111258"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWP2-1",
            "uniprot_ac": "Q9VWP2",
            "uniprot_id": "Q9VWP2_DROME",
            "refseq_ac": "NP_001259693",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ketoreductase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7322-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7322",
                    "type": "recommended"
                },
                {
                    "name": "CG7322",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7322",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7322",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWP2-1",
            "evidence": [
                {
                    "id": "0111258",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111258"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111258"
}