{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009846", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009846", 
            "name": "essential pentosuria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009846", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009846", 
            "name": "PNTSU"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009846", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009846", 
            "name": "xylitol dehydrogenase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009846", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009846", 
            "name": "pentosuria; PNTSU"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009846", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009846", 
            "name": "L-xylulose reductase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009846", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009846", 
            "name": "L-Xylulosuria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111258", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111258", 
            "name": "L-xylulose reductase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111258", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111258", 
            "name": "L-xylulosuria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111258", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111258", 
            "name": "PNTSU"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111258", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111258", 
            "name": "essential pentosuria"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111258", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111258", 
            "name": "xylitol dehydrogenase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111258", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111258", 
        "name": "pentosuria"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/260800", 
            "id": "260800", 
            "database": "MIM"
        }
    ]
}