{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0070562",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070562",
            "categories": []
        },
        {
            "id": "MONDO:0009216",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009216",
            "categories": []
        },
        {
            "id": "MIM:227810",
            "database": "MIM",
            "url": "https://www.omim.org/entry/227810",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P14246-1",
            "uniprot_ac": "P14246",
            "uniprot_id": "GTR2_MOUSE",
            "refseq_ac": "NP_112474",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 2",
                    "type": "recommended"
                },
                {
                    "name": "GLUT-2",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 2, liver",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 2, liver",
                    "type": "synonym"
                },
                {
                    "name": "liver-type glucose transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc2a2",
                    "type": "recommended"
                },
                {
                    "name": "Glut-2",
                    "type": "synonym"
                },
                {
                    "name": "Glut2",
                    "type": "synonym"
                },
                {
                    "name": "Slc2a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P14246-1",
            "evidence": [
                {
                    "id": "0070562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11168-1",
            "uniprot_ac": "P11168",
            "uniprot_id": "GTR2_HUMAN",
            "refseq_ac": "NP_000331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 2",
                    "type": "recommended"
                },
                {
                    "name": "GLUT-2",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 2, liver",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 2, liver",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2 (facilitated glucose transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC2A2",
                    "type": "recommended"
                },
                {
                    "name": "GLUT2",
                    "type": "synonym"
                },
                {
                    "name": "SLC2A2",
                    "type": "synonym"
                }
            ],
            "record_id": "P11168-1",
            "evidence": [
                {
                    "id": "227810",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/227810"
                },
                {
                    "id": "0070562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38142-1",
            "uniprot_ac": "P38142",
            "uniprot_id": "YB91_YEAST",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable metabolite transport protein YBR241C",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "YBR1625",
                    "type": "synonym"
                }
            ],
            "record_id": "P38142-1",
            "evidence": [
                {
                    "id": "0070562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53142-1",
            "uniprot_ac": "P53142",
            "uniprot_id": "VPS73_YEAST",
            "refseq_ac": "NP_011411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 73",
                    "type": "recommended"
                },
                {
                    "name": "putative sugar transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS73",
                    "type": "recommended"
                },
                {
                    "name": "G3090",
                    "type": "synonym"
                },
                {
                    "name": "VPS73",
                    "type": "synonym"
                }
            ],
            "record_id": "P53142-1",
            "evidence": [
                {
                    "id": "0070562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12336-1",
            "uniprot_ac": "P12336",
            "uniprot_id": "GTR2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 2",
                    "type": "recommended"
                },
                {
                    "name": "GLUT-2",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 2, liver",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc2a2",
                    "type": "recommended"
                },
                {
                    "name": "Glut2",
                    "type": "synonym"
                }
            ],
            "record_id": "P12336-1",
            "evidence": [
                {
                    "id": "0070562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43427-1",
            "uniprot_ac": "O43427",
            "uniprot_id": "FIBP_HUMAN",
            "refseq_ac": "NP_004205",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acidic fibroblast growth factor intracellular-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "FGF-1 intracellular-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "aFGF intracellular-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "acidic fibroblast growth factor intracellular-binding protein isoform b",
                    "type": "synonym"
                },
                {
                    "name": "acidic fibroblast growth factor intracellular-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FIBP",
                    "type": "recommended"
                },
                {
                    "name": "FGFIBP",
                    "type": "synonym"
                },
                {
                    "name": "FIBP-1",
                    "type": "synonym"
                },
                {
                    "name": "FIBP",
                    "type": "synonym"
                },
                {
                    "name": "TROFAS",
                    "type": "synonym"
                }
            ],
            "record_id": "O43427-1",
            "evidence": [
                {
                    "id": "0070562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070562"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070562"
}