{
    "disease_id": "DOID:0051005",
    "recommended_name": {
        "id": "DOID:0051005",
        "resource": "Disease Ontology",
        "url": "https://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": "https://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": "A0A8M1PDD1-1",
            "uniprot_ac": "A0A8M1PDD1",
            "uniprot_id": "A0A8M1PDD1_DANRE",
            "refseq_ac": "NP_658909",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.9",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphate isomerase a",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase a",
                    "type": "synonym"
                },
                {
                    "name": "pgi1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gpia",
                    "type": "recommended"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
                },
                {
                    "name": "gpia",
                    "type": "synonym"
                },
                {
                    "name": "gpi",
                    "type": "synonym"
                },
                {
                    "name": "pgi-1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc02c05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86919",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PDD1-1",
            "evidence": [
                {
                    "id": "0051005",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "5.3.1.9",
                    "type": "synonym"
                },
                {
                    "name": "AMF",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor",
                    "type": "synonym"
                },
                {
                    "name": "D-hexose-6-phosphate anomerase",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-phosphate C2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "NLK",
                    "type": "synonym"
                },
                {
                    "name": "Neuroleukin",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "autocrine motility factor",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphate isomerase 1 complex",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphate isomerase 1, regulatory",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphate isomerase 1, structural",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphate isomerase 1, temporal",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate C2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "maturation factor",
                    "type": "synonym"
                },
                {
                    "name": "neuroleukin",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "phosphohexose isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpi1",
                    "type": "recommended"
                },
                {
                    "name": "Gpi",
                    "type": "recommended"
                },
                {
                    "name": "Amf",
                    "type": "synonym"
                },
                {
                    "name": "Gpi-1r",
                    "type": "synonym"
                },
                {
                    "name": "Gpi-1s",
                    "type": "synonym"
                },
                {
                    "name": "Gpi-1t",
                    "type": "synonym"
                },
                {
                    "name": "Gpi-1",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1-r",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1-s",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1-t",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1s",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1",
                    "type": "synonym"
                },
                {
                    "name": "Gpi",
                    "type": "synonym"
                },
                {
                    "name": "MF",
                    "type": "synonym"
                },
                {
                    "name": "NK/GPI",
                    "type": "synonym"
                },
                {
                    "name": "NK",
                    "type": "synonym"
                },
                {
                    "name": "Nlk",
                    "type": "synonym"
                },
                {
                    "name": "Org",
                    "type": "synonym"
                },
                {
                    "name": "Pgi",
                    "type": "synonym"
                },
                {
                    "name": "Phi",
                    "type": "synonym"
                }
            ],
            "record_id": "P06745-1",
            "evidence": [
                {
                    "id": "0051005",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "5.3.1.9",
                    "type": "synonym"
                },
                {
                    "name": "AMF",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor",
                    "type": "synonym"
                },
                {
                    "name": "D-hexose-6-phosphate anomerase",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-phosphate C2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "NLK",
                    "type": "synonym"
                },
                {
                    "name": "Neuroleukin",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "SA-36",
                    "type": "synonym"
                },
                {
                    "name": "Sperm antigen 36",
                    "type": "synonym"
                },
                {
                    "name": "autocrine motility factor",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate C2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hexose monophosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "hexosephosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "neuroleukin",
                    "type": "synonym"
                },
                {
                    "name": "oxoisomerase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "phosphohexomutase",
                    "type": "synonym"
                },
                {
                    "name": "phosphohexose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "phosphosaccharomutase",
                    "type": "synonym"
                },
                {
                    "name": "sperm antigen-36",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI",
                    "type": "recommended"
                },
                {
                    "name": "AMF",
                    "type": "synonym"
                },
                {
                    "name": "CNSHA4",
                    "type": "synonym"
                },
                {
                    "name": "GNPI",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "type": "synonym"
                },
                {
                    "name": "NLK",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "type": "synonym"
                },
                {
                    "name": "SA-36",
                    "type": "synonym"
                },
                {
                    "name": "SA36",
                    "type": "synonym"
                }
            ],
            "record_id": "P06744-1",
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                    "id": "613470",
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                    "url": "https://www.omim.org/entry/613470"
                },
                {
                    "id": "0051005",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "5.1.3.-",
                    "type": "synonym"
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                {
                    "name": "5.3.1.9",
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                },
                {
                    "name": "D-hexose-6-phosphate anomerase",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-phosphate C2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGI1",
                    "type": "recommended"
                },
                {
                    "name": "CDC30",
                    "type": "synonym"
                },
                {
                    "name": "PGI1",
                    "type": "synonym"
                },
                {
                    "name": "YBR1406",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0051005",
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                }
            ]
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            "uniprot_canonical_ac": "Q6P6V0-1",
            "uniprot_ac": "Q6P6V0",
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            "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": [
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                    "name": "Glucose-6-phosphate isomerase",
                    "type": "recommended"
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                    "name": "5.1.3.-",
                    "type": "synonym"
                },
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                    "name": "5.3.1.9",
                    "type": "synonym"
                },
                {
                    "name": "AMF",
                    "type": "synonym"
                },
                {
                    "name": "Autocrine motility factor",
                    "type": "synonym"
                },
                {
                    "name": "D-hexose-6-phosphate anomerase",
                    "type": "synonym"
                },
                {
                    "name": "GPI",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-6-phosphate C2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "NLK",
                    "type": "synonym"
                },
                {
                    "name": "Neuroleukin",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
                },
                {
                    "name": "PHI",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "autocrine motility factor",
                    "type": "synonym"
                },
                {
                    "name": "glucose-6-phosphate isomerase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Gpi",
                    "type": "recommended"
                },
                {
                    "name": "Amf",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1",
                    "type": "synonym"
                },
                {
                    "name": "Gpi",
                    "type": "synonym"
                },
                {
                    "name": "Nlk",
                    "type": "synonym"
                },
                {
                    "name": "Pgi",
                    "type": "synonym"
                },
                {
                    "name": "Phi",
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                }
            ],
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                    "id": "0051005",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
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        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.9",
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                {
                    "name": "CG8251-PA",
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                {
                    "name": "GPI",
                    "type": "synonym"
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                {
                    "name": "Glucose-6-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "PGI",
                    "type": "synonym"
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                {
                    "name": "PHI",
                    "type": "synonym"
                },
                {
                    "name": "Pgi-PA",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphohexose isomerase",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucoisomerase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucose isomerase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucose isomerase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pgi",
                    "type": "recommended"
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                    "name": "CG8251",
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                },
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                    "name": "DmG6PI",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG8251",
                    "type": "synonym"
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                {
                    "name": "GPI",
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                    "name": "Gpi",
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                    "name": "PGI",
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                    "name": "Pgi",
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                {
                    "name": "gpi",
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                    "name": "pgi",
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                    "id": "0051005",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
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            "uniprot_canonical_ac": "Q99489-1",
            "uniprot_ac": "Q99489",
            "uniprot_id": "OXDD_HUMAN",
            "refseq_ac": "NP_001359037",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "D-aspartate oxidase",
                    "type": "recommended"
                },
                {
                    "name": "1.4.3.1",
                    "type": "synonym"
                },
                {
                    "name": "D-aspartate oxidase isoform h",
                    "type": "synonym"
                },
                {
                    "name": "D-aspartate oxidase, DDO",
                    "type": "synonym"
                },
                {
                    "name": "DASOX",
                    "type": "synonym"
                },
                {
                    "name": "DASPO",
                    "type": "synonym"
                },
                {
                    "name": "DDO",
                    "type": "synonym"
                },
                {
                    "name": "aspartic oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDO",
                    "type": "recommended"
                },
                {
                    "name": "DASOX",
                    "type": "synonym"
                },
                {
                    "name": "DASPO",
                    "type": "synonym"
                },
                {
                    "name": "DDO-1",
                    "type": "synonym"
                },
                {
                    "name": "DDO-2",
                    "type": "synonym"
                },
                {
                    "name": "DDO",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0051005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051005"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051005"
}