{
    "disease_id": "DOID:0061288",
    "recommended_name": {
        "id": "DOID:0061288",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061288",
        "name": "glycogen storage disease XIII",
        "description": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease due to muscle beta-enolase deficiency",
            "description": "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle."
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "GSD due to muscle beta-enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "GSDXIII",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease due to muscle beta-enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogenosis due to muscle beta-enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogenosis type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "muscle enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "muscular enolase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "GSD13",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease 13",
            "description": ""
        },
        {
            "id": "MONDO:0013046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013046",
            "name": "glycogen storage disease XIII",
            "description": ""
        },
        {
            "id": "MIM:612932",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612932",
            "name": "Glycogen storage disease 13",
            "description": "Glycogen storage disease 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061288"
    ],
    "unlinked_id_list": []
}