{
    "disease_id": "DOID:0070562",
    "recommended_name": {
        "id": "DOID:0070562",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070562",
        "name": "Fanconi-Bickel syndrome",
        "description": "A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070562",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070562",
            "name": "FBS",
            "description": ""
        },
        {
            "id": "DOID:0070562",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070562",
            "name": "glycogen storage disease XI",
            "description": ""
        },
        {
            "id": "DOID:0070562",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070562",
            "name": "glycogenosis type XI",
            "description": ""
        },
        {
            "id": "DOID:0070562",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070562",
            "name": "glycogenosis, Fanconi type",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "glycogen storage disease due to GLUT2 deficiency",
            "description": "Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism."
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "Bickel-Fanconi glycogenosis",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "FBS",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "Fanconi Bickel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "Fanconi syndrome with intestinal malabsorption and galactose intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "Fanconi-Bickel disease",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "Fanconi-Bickel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "GSD due to GLUT2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "glycogen storage disease due to GLUT2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "glycogenosis due to GLUT2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "GLUT2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "GSD type 11",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "GSD type XI",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "glycogen storage disease 11",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "glycogen storage disease XI",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "glycogen storage disease type 11",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "glycogen storage disease type XI",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "glycogenosis Fanconi EXACT",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "hepatic glycogenosis with amino aciduria and glucosuria",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "hepatorenal glycogenosis with renal Fanconi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "hepatorenal glycogenosis with renal fanconi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "name": "pseudo-phlorizin diabetes",
            "description": ""
        },
        {
            "id": "MIM:227810",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/227810",
            "name": "Fanconi-Bickel syndrome",
            "description": "Fanconi-Bickel syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070562"
    ],
    "unlinked_id_list": []
}