{
    "disease_id": "DOID:0111042",
    "recommended_name": {
        "id": "DOID:0111042",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111042",
        "name": "glycogen storage disease IXa",
        "description": "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111042",
            "name": "GSD type 9A",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111042",
            "name": "GSD type IXa",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111042",
            "name": "GSD9A",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111042",
            "name": "glycogen storage disease type 9A",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111042",
            "name": "glycogen storage disease type IXa",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111042",
            "name": "glycogenosis type 9A",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111042",
            "name": "glycogenosis type IXa",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease IXa",
            "description": "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene."
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease IXa1",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease type 9A",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "PHKA2 glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "GSD type 9A",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease VIII, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease IXa1; GSD9A1",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "GSD type IXa",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "GSD VIII, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease VIII",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "GSD VIII",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease type IXa",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogenosis type IXa",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "GSD9A1",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "GSD9A",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "liver glycogenosis, X-linked, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogenosis type 9A",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease IXa2",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "liver glycogenosis, X-linked, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "GSD IXa2",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "PHKA2-related glycogen storage disease type IX",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease caused by mutation in PHKA2",
            "description": ""
        },
        {
            "id": "MIM:306000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/306000",
            "name": "Glycogen storage disease 9A",
            "description": "Glycogen storage disease 9A"
        }
    ]
}