{
    "disease_id": "DOID:0081331",
    "recommended_name": {
        "id": "DOID:0081331",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081331",
        "name": "glycogen storage disease Ic",
        "description": "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib."
    },
    "synonyms": [
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogen storage disease Ib",
            "description": "A type of glycogenosis due to G6P deficiency."
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "G6P deficiency type IB",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "G6P translocase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "G6PT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSD Ib",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSD due to G6P deficiency type IB",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSD due to G6PT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSD type 1 non a",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSD type 1b",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSD type IB",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSD1B",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSDIb",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glucose-6-phosphate transport defect",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogen storage disease Ib",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogen storage disease Ic",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogen storage disease due to G6P deficiency type IB",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogen storage disease type 1b",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogen storage disease type I non-a",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogen storage disease type IB",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogen storage disease type Ic",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogenosis due to glucose-6-phosphatase deficiency type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogenosis due to glucose-6-phosphatase transport defect type IB",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogenosis type 1b",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "glycogenosis type IB",
            "description": ""
        },
        {
            "id": "MONDO:0009288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "name": "GSD1C",
            "description": ""
        },
        {
            "id": "MIM:232240",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/232240",
            "name": "Glycogen storage disease 1C",
            "description": "Glycogen storage disease 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081331"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081331",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081331",
            "categories": []
        },
        {
            "id": "MONDO:0009288",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009288",
            "categories": []
        },
        {
            "id": "MIM:232240",
            "database": "MIM",
            "url": "https://www.omim.org/entry/232240",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O43826-1",
            "uniprot_ac": "O43826",
            "uniprot_id": "G6PT1_HUMAN",
            "refseq_ac": "NP_001157749",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphate exchanger SLC37A4",
                    "type": "recommended"
                },
                {
                    "name": "Glucose-6-phosphate translocase",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-phosphate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 37 member 4",
                    "type": "synonym"
                },
                {
                    "name": "TRG-19",
                    "type": "synonym"
                },
                {
                    "name": "Transformation-related gene 19 protein",
                    "type": "synonym"
                },
                {
                    "name": "glucose-5-phosphate transporter",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase transporter",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase, transport (glucose) protein 3",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate exchanger SLC37A4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate exchanger SLC37A4",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate translocase",
                    "type": "synonym"
                },
                {
                    "name": "microsomal glucose-6-phosphate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 37 (glucose-6-phosphate transporter), member 4",
                    "type": "synonym"
                },
                {
                    "name": "sugar-phosphate exchange protein 4",
                    "type": "synonym"
                },
                {
                    "name": "transformation-related gene 19 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC37A4",
                    "type": "recommended"
                },
                {
                    "name": "CDG2W",
                    "type": "synonym"
                },
                {
                    "name": "G6PT1",
                    "type": "synonym"
                },
                {
                    "name": "G6PT2",
                    "type": "synonym"
                },
                {
                    "name": "G6PT3",
                    "type": "synonym"
                },
                {
                    "name": "G6PT",
                    "type": "synonym"
                },
                {
                    "name": "GSD1b",
                    "type": "synonym"
                },
                {
                    "name": "GSD1c",
                    "type": "synonym"
                },
                {
                    "name": "GSD1d",
                    "type": "synonym"
                },
                {
                    "name": "PRO0685",
                    "type": "synonym"
                },
                {
                    "name": "SLC37A4",
                    "type": "synonym"
                },
                {
                    "name": "SPX4",
                    "type": "synonym"
                },
                {
                    "name": "TRG-19",
                    "type": "synonym"
                },
                {
                    "name": "TRG19",
                    "type": "synonym"
                }
            ],
            "record_id": "O43826-1",
            "evidence": [
                {
                    "id": "0009288",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009288"
                },
                {
                    "id": "232240",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/232240"
                },
                {
                    "id": "0081331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JTY3-1",
            "uniprot_ac": "A0A0G2JTY3",
            "uniprot_id": "A0A0G2JTY3_RAT",
            "refseq_ac": "XP_008764373",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 37 member 4",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate exchanger SLC37A4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc37a4",
                    "type": "recommended"
                },
                {
                    "name": "G6pt1",
                    "type": "synonym"
                },
                {
                    "name": "Slc37a4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JTY3-1",
            "evidence": [
                {
                    "id": "0081331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081331"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081331"
}