{
    "disease_id": "DOID:0111680",
    "recommended_name": {
        "id": "DOID:0111680",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111680",
        "name": "essential fructosuria",
        "description": "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111680",
            "name": "fructokinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111680",
            "name": "hepatic fructokinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111680",
            "name": "ketohexokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "name": "essential fructosuria",
            "description": "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated."
        },
        {
            "id": "MONDO:0009252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "name": "fructokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "name": "fructosuria, essential",
            "description": ""
        },
        {
            "id": "MONDO:0009252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "name": "ketohexokinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:229800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/229800",
            "name": "Fructosuria",
            "description": "Fructosuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111680"
    ],
    "unlinked_id_list": []
}