{
    "disease_id": "DOID:0061271",
    "recommended_name": {
        "id": "DOID:0061271",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061271",
        "name": "liver glycogen storage disease",
        "description": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disorder due to hepatic glycogen synthase deficiency",
            "description": "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves."
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "GSD due to hepatic glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "GSD type 0a",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease due to glycogen synthase deficiency of liver",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease due to hepatic glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease due to liver glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease type 0a",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogenosis type 0a",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "liver glycogen storage disease due to glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "GSD0A",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease 0, liver",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease type 0, liver",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "hepatic glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "hypoglycemia with deficiency of glycogen synthetase in the liver",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "liver GSD 0",
            "description": ""
        },
        {
            "id": "MIM:240600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/240600",
            "name": "Glycogen storage disease 0",
            "description": "Glycogen storage disease 0"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061271"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061271",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061271",
            "categories": []
        },
        {
            "id": "MONDO:0009414",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "categories": []
        },
        {
            "id": "MIM:240600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/240600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P54840-1",
            "uniprot_ac": "P54840",
            "uniprot_id": "GYS2_HUMAN",
            "refseq_ac": "NP_068776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycogen [starch] synthase, liver",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.11",
                    "type": "synonym"
                },
                {
                    "name": "Glycogen synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "glycogen [starch] synthase, liver",
                    "type": "synonym"
                },
                {
                    "name": "glycogen synthase 2 (liver)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GYS2",
                    "type": "recommended"
                },
                {
                    "name": "GYS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54840-1",
            "evidence": [
                {
                    "id": "240600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/240600"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061271"
}