{
    "disease_id": "DOID:0111040",
    "recommended_name": {
        "id": "DOID:0111040",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111040",
        "name": "glycogen storage disease IXd",
        "description": "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13."
    },
    "synonyms": [
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD IXd",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD type 9D",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD type 9E",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD type IXd",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD type IXe",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD9D",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "X-linked muscke glycogenosis",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease type 9D",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease type 9E",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease type IXd",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease type IXe",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis type 9D",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis type 9E",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis type IXd",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis type IXe",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease IXd",
            "description": "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness."
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD type 9D",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD type IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD9D",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "PHKA1 glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "PHKA1-related glycogen storage disease type IX",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease caused by mutation in PHKA1",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease type 9D",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease type IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogenosis due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogenosis type 9D",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogenosis type IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "muscle glycogenosis, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD Vb",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease, type IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "muscular phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:300559",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300559",
            "name": "Glycogen storage disease 9D",
            "description": "Glycogen storage disease 9D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111040"
    ],
    "unlinked_id_list": []
}