{
    "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": []
}