{
    "disease_id": "DOID:0051005",
    "recommended_name": {
        "id": "DOID:0051005",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051005",
        "name": "congenital nonspherocytic hemolytic anemia 4",
        "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013275",
            "name": "hemolytic anemia due to glucophosphate isomerase deficiency",
            "description": "A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment."
        },
        {
            "id": "MONDO:0013275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013275",
            "name": "CNSHA4",
            "description": ""
        },
        {
            "id": "MONDO:0013275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013275",
            "name": "anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient",
            "description": ""
        },
        {
            "id": "MONDO:0013275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013275",
            "name": "glucosephosphate isomerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013275",
            "name": "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency",
            "description": ""
        },
        {
            "id": "MIM:613470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613470",
            "name": "Anemia, congenital, non-spherocytic hemolytic, 4",
            "description": "Anemia, congenital, non-spherocytic hemolytic, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051005"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051005",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051005",
            "categories": []
        },
        {
            "id": "MONDO:0013275",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013275",
            "categories": []
        },
        {
            "id": "MIM:613470",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613470",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52029-1",
            "uniprot_ac": "P52029",
            "uniprot_id": "G6PI_DROME",
            "refseq_ac": "NP_523663",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphate isomerase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG8251-PA; Pgi-PA; phosphoglucose isomerase; Glucose-6-phosphate isomerase; phosphoglucoisomerase; glucose phosphate isomerase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucose isomerase, isoform A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgi",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG8251; Dmel\\CG8251; DmG6PI; gpi; Gpi; GPI; pgi; PGI",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG8251",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Pgi",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06745-1",
            "uniprot_ac": "P06745",
            "uniprot_id": "G6PI_MOUSE",
            "refseq_ac": "NP_032181",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphate isomerase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AMF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NLK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Neuroleukin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "autocrine motility factor; neuroleukin; phosphohexose isomerase; phosphoglucose isomerase; glucose phosphate isomerase 1, temporal; glucose phosphate isomerase 1, regulatory; glucose phosphate isomerase 1, structural; maturation factor; glucose phosphate isomerase 1 complex",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpi1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Gpi",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Amf; Gpi; Gpi-1; Gpi-1r; Gpi-1s; Gpi-1t; Gpi1-r; Gpi1-s; Gpi1-t; Gpi1s; MF; NK; NK/GPI; Nlk; Org; Pgi; Phi",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12709-1",
            "uniprot_ac": "P12709",
            "uniprot_id": "G6PI_YEAST",
            "refseq_ac": "NP_009755",
            "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": "Glucose-6-phosphate isomerase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGI1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CDC30",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PGI1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "YBR1406",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99489-1",
            "uniprot_ac": "Q99489",
            "uniprot_id": "OXDD_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-aspartate oxidase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.4.3.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DASOX",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DASPO",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DDO",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDO",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0051005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06744-1",
            "uniprot_ac": "P06744",
            "uniprot_id": "G6PI_HUMAN",
            "refseq_ac": "NP_000166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphate isomerase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AMF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NLK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Neuroleukin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SA-36",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Sperm antigen 36",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "neuroleukin; autocrine motility factor; sperm antigen-36; phosphoglucose isomerase; phosphohexose isomerase; phosphohexomutase; hexosephosphate isomerase; hexose monophosphate isomerase; phosphosaccharomutase; oxoisomerase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36; SA36",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                },
                {
                    "id": "613470",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0IJ39-1",
            "uniprot_ac": "Q0IJ39",
            "uniprot_id": "Q0IJ39_DANRE",
            "refseq_ac": "NP_658910",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphate isomerase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphate isomerase b",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase b",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gpib",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "PGI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "gpi; PGI; pgi-2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "gpib",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "gpi",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "pgi-2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P6V0-1",
            "uniprot_ac": "Q6P6V0",
            "uniprot_id": "G6PI_RAT",
            "refseq_ac": "NP_997475",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose-6-phosphate isomerase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.9",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "AMF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NLK",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Neuroleukin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "autocrine motility factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpi",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Amf; Gpi1; Nlk; Pgi; Phi",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Gpi",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051005",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051005"
}