{
    "disease_id": "DOID:0050579",
    "recommended_name": {
        "id": "DOID:0050579",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050579",
        "name": "glycogen storage disease XV",
        "description": "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1."
    },
    "synonyms": [
        {
            "id": "DOID:0050579",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050579",
            "name": "glycogen storage disease type XV",
            "description": ""
        },
        {
            "id": "DOID:0050579",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050579",
            "name": "Glycogen storage disease 15",
            "description": ""
        },
        {
            "id": "DOID:0050579",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050579",
            "name": "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "glycogen storage disease XV",
            "description": "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle."
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "GSD type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "GSD type XV",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "GSD with severe cardiomyopathy due to glycogenin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "glycogen storage disease XV",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "glycogen storage disease type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "glycogen storage disease type XV",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "glycogenosis type 15",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "glycogenosis type XV",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "glycogenosis with severe cardiomyopathy due to glycogenin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013291",
            "name": "GSD15",
            "description": ""
        },
        {
            "id": "MIM:613507",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613507",
            "name": "Glycogen storage disease 15",
            "description": "Glycogen storage disease 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050579"
    ],
    "unlinked_id_list": []
}