{
    "disease_id": "DOID:0090101",
    "recommended_name": {
        "id": "DOID:0090101",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090101",
        "name": "lethal congenital glycogen storage disease of heart",
        "description": "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36."
    },
    "synonyms": [
        {
            "id": "DOID:0090101",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090101",
            "name": "fatal congenital hypertrophic cardiomyopathy due to GSD",
            "description": ""
        },
        {
            "id": "DOID:0090101",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090101",
            "name": "fatal congenital nonlysosomal cardiac glycogenosis",
            "description": ""
        },
        {
            "id": "DOID:0090101",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090101",
            "name": "phosphorylase kinase deficiency of heart",
            "description": ""
        },
        {
            "id": "DOID:0090101",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090101",
            "name": "fatal congenital hypertrophic cardiomyopathy due to glycogenosis",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "lethal congenital glycogen storage disease of heart",
            "description": "Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene."
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "PRKAG2 glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "fatal congenital hypertrophic cardiomyopathy due to GSD",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "fatal congenital hypertrophic cardiomyopathy due to glycogenosis",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "fatal congenital nonlysosomal cardiac glycogenosis",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "glycogen storage disease caused by mutation in PRKAG2",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "phosphorylase kinase deficiency of heart",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "glycogen storage disease of heart",
            "description": ""
        },
        {
            "id": "MONDO:0009867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009867",
            "name": "glycogen storage disease of heart, lethal congenital",
            "description": ""
        },
        {
            "id": "MIM:261740",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261740",
            "name": "Glycogen storage disease of heart lethal congenital",
            "description": "Glycogen storage disease of heart lethal congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090101"
    ],
    "unlinked_id_list": []
}