{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0061285",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061285",
            "categories": []
        },
        {
            "id": "MONDO:0009865",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009865",
            "categories": []
        },
        {
            "id": "MIM:261670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/261670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15259-1",
            "uniprot_ac": "P15259",
            "uniprot_id": "PGAM2_HUMAN",
            "refseq_ac": "NP_000281",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglycerate mutase 2",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.11",
                    "type": "synonym"
                },
                {
                    "name": "5.4.2.4",
                    "type": "synonym"
                },
                {
                    "name": "BPG-dependent PGAM 2",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific phosphoglycerate mutase",
                    "type": "synonym"
                },
                {
                    "name": "PGAM-M",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglycerate mutase isozyme M",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific phosphoglycerate mutase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate mutase 2 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate mutase 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate mutase isozyme M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGAM2",
                    "type": "recommended"
                },
                {
                    "name": "GSD10",
                    "type": "synonym"
                },
                {
                    "name": "PGAM-M",
                    "type": "synonym"
                },
                {
                    "name": "PGAM2",
                    "type": "synonym"
                },
                {
                    "name": "PGAMM",
                    "type": "synonym"
                }
            ],
            "record_id": "P15259-1",
            "evidence": [
                {
                    "id": "261670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/261670"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061285"
}