{
    "disease_id": "DOID:0111630",
    "recommended_name": {
        "id": "DOID:0111630",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111630",
        "name": "familial erythrocytosis 8",
        "description": "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33."
    },
    "synonyms": [
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111630",
            "name": "diphosphoglycerate mutase deficiency of erythrocyte",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111630",
            "name": "BPGM deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111630",
            "name": "DPGM deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111630",
            "name": "ECYT8",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111630",
            "name": "bisphosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111630",
            "name": "bisphosphoglyceromutase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111630",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111630",
            "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency",
            "description": "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly."
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "diphosphoglycerate phosphatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "name": "erythrocytosis, familial, 8",
            "description": ""
        },
        {
            "id": "MIM:222800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222800",
            "name": "Erythrocytosis, familial, 8",
            "description": "Erythrocytosis, familial, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111630"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111630",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111630",
            "categories": []
        },
        {
            "id": "MONDO:0009113",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009113",
            "categories": []
        },
        {
            "id": "MIM:222800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/222800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15327-1",
            "uniprot_ac": "P15327",
            "uniprot_id": "PMGE_MOUSE",
            "refseq_ac": "NP_031589",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bisphosphoglycerate mutase",
                    "type": "recommended"
                },
                {
                    "name": "2,3-bisphosphoglycerate mutase, erythrocyte",
                    "type": "synonym"
                },
                {
                    "name": "2,3-bisphosphoglycerate synthase",
                    "type": "synonym"
                },
                {
                    "name": "5.4.2.11",
                    "type": "synonym"
                },
                {
                    "name": "5.4.2.4",
                    "type": "synonym"
                },
                {
                    "name": "BPG-dependent PGAM",
                    "type": "synonym"
                },
                {
                    "name": "BPGM",
                    "type": "synonym"
                },
                {
                    "name": "bisphosphoglycerate mutase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bisphosphoglycerate mutase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bpgm",
                    "type": "recommended"
                },
                {
                    "name": "Bpgm",
                    "type": "synonym"
                }
            ],
            "record_id": "P15327-1",
            "evidence": [
                {
                    "id": "0111630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07738-1",
            "uniprot_ac": "P07738",
            "uniprot_id": "PMGE_HUMAN",
            "refseq_ac": "NP_001280014",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bisphosphoglycerate mutase",
                    "type": "recommended"
                },
                {
                    "name": "2,3-bisphosphoglycerate mutase, erythrocyte",
                    "type": "synonym"
                },
                {
                    "name": "2,3-bisphosphoglycerate synthase",
                    "type": "synonym"
                },
                {
                    "name": "2,3-diphosphoglycerate mutase",
                    "type": "synonym"
                },
                {
                    "name": "5.4.2.11",
                    "type": "synonym"
                },
                {
                    "name": "5.4.2.4",
                    "type": "synonym"
                },
                {
                    "name": "BPG-dependent PGAM",
                    "type": "synonym"
                },
                {
                    "name": "BPGM",
                    "type": "synonym"
                },
                {
                    "name": "DPGM",
                    "type": "synonym"
                },
                {
                    "name": "bisphosphoglycerate mutase",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte 2,3-bisphosphoglycerate mutase",
                    "type": "synonym"
                },
                {
                    "name": "testis secretory sperm-binding protein Li 202a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BPGM",
                    "type": "recommended"
                },
                {
                    "name": "BPGM",
                    "type": "synonym"
                },
                {
                    "name": "DPGM",
                    "type": "synonym"
                },
                {
                    "name": "ECYT8",
                    "type": "synonym"
                }
            ],
            "record_id": "P07738-1",
            "evidence": [
                {
                    "id": "222800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/222800"
                },
                {
                    "id": "0111630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00950-1",
            "uniprot_ac": "P00950",
            "uniprot_id": "PMG1_YEAST",
            "refseq_ac": "NP_012770",
            "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 mutase 1",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.11",
                    "type": "synonym"
                },
                {
                    "name": "BPG-dependent PGAM 1",
                    "type": "synonym"
                },
                {
                    "name": "MPGM 1",
                    "type": "synonym"
                },
                {
                    "name": "PGAM 1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglyceromutase 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate mutase GPM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPM1",
                    "type": "recommended"
                },
                {
                    "name": "GPM1",
                    "type": "synonym"
                },
                {
                    "name": "GPM",
                    "type": "synonym"
                },
                {
                    "name": "YKL607",
                    "type": "synonym"
                }
            ],
            "record_id": "P00950-1",
            "evidence": [
                {
                    "id": "0111630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12326-1",
            "uniprot_ac": "Q12326",
            "uniprot_id": "PMG3_YEAST",
            "refseq_ac": "NP_014585",
            "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 mutase 3",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.11",
                    "type": "synonym"
                },
                {
                    "name": "BPG-dependent PGAM 3",
                    "type": "synonym"
                },
                {
                    "name": "MPGM 3",
                    "type": "synonym"
                },
                {
                    "name": "PGAM 3",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglyceromutase 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate mutase family protein GPM3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPM3",
                    "type": "recommended"
                },
                {
                    "name": "GPM3",
                    "type": "synonym"
                },
                {
                    "name": "O1236",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12326-1",
            "evidence": [
                {
                    "id": "0111630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12008-1",
            "uniprot_ac": "Q12008",
            "uniprot_id": "PMG2_YEAST",
            "refseq_ac": "NP_010263",
            "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 mutase 2",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.11",
                    "type": "synonym"
                },
                {
                    "name": "BPG-dependent PGAM 2",
                    "type": "synonym"
                },
                {
                    "name": "MPGM 2",
                    "type": "synonym"
                },
                {
                    "name": "PGAM 2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglyceromutase 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglycerate mutase family protein GPM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPM2",
                    "type": "recommended"
                },
                {
                    "name": "D2835",
                    "type": "synonym"
                },
                {
                    "name": "GPM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12008-1",
            "evidence": [
                {
                    "id": "0111630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P6G4-1",
            "uniprot_ac": "Q6P6G4",
            "uniprot_id": "Q6P6G4_RAT",
            "refseq_ac": "NP_955414",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglycerate mutase",
                    "type": "recommended"
                },
                {
                    "name": "2,3-bisphosphoglycerate mutase",
                    "type": "synonym"
                },
                {
                    "name": "5.4.2.11",
                    "type": "synonym"
                },
                {
                    "name": "5.4.2.4",
                    "type": "synonym"
                },
                {
                    "name": "bisphosphoglycerate mutase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bpgm",
                    "type": "recommended"
                },
                {
                    "name": "Ab2-098",
                    "type": "synonym"
                },
                {
                    "name": "Bpgm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P6G4-1",
            "evidence": [
                {
                    "id": "0111630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111630"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111630"
}