{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111933",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111933",
            "categories": []
        },
        {
            "id": "MONDO:0010392",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010392",
            "categories": []
        },
        {
            "id": "MIM:300653",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300653",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P09411-1",
            "uniprot_ac": "P09411",
            "uniprot_id": "PGK1_MOUSE",
            "refseq_ac": "NP_032854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglycerate kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.2.3",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgk1",
                    "type": "recommended"
                },
                {
                    "name": "Pgk-1",
                    "type": "synonym"
                },
                {
                    "name": "Pgk1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09411-1",
            "evidence": [
                {
                    "id": "0111933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00558-1",
            "uniprot_ac": "P00558",
            "uniprot_id": "PGK1_HUMAN",
            "refseq_ac": "NP_000282",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglycerate kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.2.3",
                    "type": "synonym"
                },
                {
                    "name": "Cell migration-inducing gene 10 protein",
                    "type": "synonym"
                },
                {
                    "name": "PRP 2",
                    "type": "synonym"
                },
                {
                    "name": "Primer recognition protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cell migration-inducing gene 10 protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 68p",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "primer recognition protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGK1",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-68p",
                    "type": "synonym"
                },
                {
                    "name": "MIG10",
                    "type": "synonym"
                },
                {
                    "name": "PGK1",
                    "type": "synonym"
                },
                {
                    "name": "PGKA",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.110",
                    "type": "synonym"
                }
            ],
            "record_id": "P00558-1",
            "evidence": [
                {
                    "id": "300653",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300653"
                },
                {
                    "id": "0111933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00560-1",
            "uniprot_ac": "P00560",
            "uniprot_id": "PGK_YEAST",
            "refseq_ac": "NP_009938",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglycerate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.2.3",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGK1",
                    "type": "recommended"
                },
                {
                    "name": "PGK1",
                    "type": "synonym"
                },
                {
                    "name": "YCR12W",
                    "type": "synonym"
                }
            ],
            "record_id": "P00560-1",
            "evidence": [
                {
                    "id": "0111933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16617-1",
            "uniprot_ac": "P16617",
            "uniprot_id": "PGK1_RAT",
            "refseq_ac": "NP_445743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglycerate kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.2.3",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgk1",
                    "type": "recommended"
                },
                {
                    "name": "Pgk-1",
                    "type": "synonym"
                },
                {
                    "name": "Pgk1l1",
                    "type": "synonym"
                },
                {
                    "name": "Pgk1",
                    "type": "synonym"
                },
                {
                    "name": "Pgk",
                    "type": "synonym"
                }
            ],
            "record_id": "P16617-1",
            "evidence": [
                {
                    "id": "0111933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01604-1",
            "uniprot_ac": "Q01604",
            "uniprot_id": "PGK_DROME",
            "refseq_ac": "NP_001259956",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglycerate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.2.3",
                    "type": "synonym"
                },
                {
                    "name": "CG3127-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pgk-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 23AB3",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate kinase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate kinase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgk",
                    "type": "recommended"
                },
                {
                    "name": "169C9S",
                    "type": "synonym"
                },
                {
                    "name": "CG3127",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3127",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3127",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:169C9S",
                    "type": "synonym"
                },
                {
                    "name": "PGK",
                    "type": "synonym"
                },
                {
                    "name": "Pgk",
                    "type": "synonym"
                },
                {
                    "name": "anon-sts18",
                    "type": "synonym"
                },
                {
                    "name": "l(2)23AB3",
                    "type": "synonym"
                },
                {
                    "name": "l(2)23Ac",
                    "type": "synonym"
                },
                {
                    "name": "pgk1",
                    "type": "synonym"
                },
                {
                    "name": "pgk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01604-1",
            "evidence": [
                {
                    "id": "0111933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111933"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQF4-1",
            "uniprot_ac": "Q9VQF4",
            "uniprot_id": "Q9VQF4_DROME",
            "refseq_ac": "NP_608704",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglycerate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.2.3",
                    "type": "synonym"
                },
                {
                    "name": "CG9961-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgk2",
                    "type": "recommended"
                },
                {
                    "name": "CG9961",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9961",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9961",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQF4-1",
            "evidence": [
                {
                    "id": "0111933",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111933"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111933"
}