{
    "disease_id": "DOID:0111933",
    "recommended_name": {
        "id": "DOID:0111933",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111933",
        "name": "phosphoglycerate kinase 1 deficiency",
        "description": "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111933",
            "name": "GSD due to phosphoglycerate kinase 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111933",
            "name": "PGK1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111933",
            "name": "glycogen storage disease due to phosphoglycerate kinase 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111933",
            "name": "glycogenosis due to phosphoglycerate kinase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "glycogen storage disease due to phosphoglycerate kinase 1 deficiency",
            "description": "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities."
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "GSD due to phosphoglycerate kinase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "PGK1 glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "Phosphoglycerate Kinase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "glycogen storage disease caused by mutation in PGK1",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "glycogen storage disease due to phosphoglycerate kinase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "glycogenosis due to phosphoglycerate kinase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "phosphoglycerate kinase 1 deficiency, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "PGK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "name": "Phosphoglycerate kinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:300653",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300653",
            "name": "Phosphoglycerate kinase 1 deficiency",
            "description": "Phosphoglycerate kinase 1 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111933"
    ],
    "unlinked_id_list": []
}