{
    "disease_id": "DOID:0061285",
    "recommended_name": {
        "id": "DOID:0061285",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061285",
        "name": "glycogen storage disease X",
        "description": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "glycogen storage disease due to phosphoglycerate mutase deficiency",
            "description": "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy."
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "GSD due to phosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "GSD type 10",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "PGAM2 glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "glycogen storage disease caused by mutation in PGAM2",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "glycogen storage disease type 10",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "glycogenosis due to phosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "muscle phosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "myopathy due to phosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "GSD10",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "GSDX",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "PGAM deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "Phosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009865",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "name": "glycogen storage disease X",
            "description": ""
        },
        {
            "id": "MIM:261670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261670",
            "name": "Glycogen storage disease 10",
            "description": "Glycogen storage disease 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061285"
    ],
    "unlinked_id_list": []
}