{
    "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": []
}