{
    "disease_id": "DOID:0050884",
    "recommended_name": {
        "id": "DOID:0050884",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050884",
        "name": "triosephosphate isomerase deficiency",
        "description": "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait."
    },
    "synonyms": [
        {
            "id": "DOID:0050884",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050884",
            "name": "Triose phosphate-isomerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014221",
            "name": "triosephosphate isomerase deficiency",
            "description": "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration."
        },
        {
            "id": "MONDO:0014221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014221",
            "name": "hemolytic anaemia due to triosephosphate isomerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014221",
            "name": "hemolytic anemia due to triosephosphate isomerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014221",
            "name": "triose phosphate-isomerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014221",
            "name": "triosephosphate isomerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014221",
            "name": "TPI deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014221",
            "name": "TPID",
            "description": ""
        },
        {
            "id": "MIM:615512",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615512",
            "name": "Triosephosphate isomerase deficiency",
            "description": "Triosephosphate isomerase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050884"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050884",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050884",
            "categories": []
        },
        {
            "id": "MONDO:0014221",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014221",
            "categories": []
        },
        {
            "id": "MIM:615512",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615512",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90XG0-1",
            "uniprot_ac": "Q90XG0",
            "uniprot_id": "TPISB_DANRE",
            "refseq_ac": "NP_705954",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triosephosphate isomerase B",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.3",
                    "type": "synonym"
                },
                {
                    "name": "5.3.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Methylglyoxal synthase B",
                    "type": "synonym"
                },
                {
                    "name": "TIM-B",
                    "type": "synonym"
                },
                {
                    "name": "Triose-phosphate isomerase B",
                    "type": "synonym"
                },
                {
                    "name": "methylglyoxal synthase B",
                    "type": "synonym"
                },
                {
                    "name": "triose-phosphate isomerase B",
                    "type": "synonym"
                },
                {
                    "name": "triosephosphate isomerase B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tpi1b",
                    "type": "recommended"
                },
                {
                    "name": "DrTPI-B",
                    "type": "synonym"
                },
                {
                    "name": "TIM-B",
                    "type": "synonym"
                },
                {
                    "name": "cb179",
                    "type": "synonym"
                },
                {
                    "name": "tpi1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb51c02",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90XG0-1",
            "evidence": [
                {
                    "id": "0050884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1MTI4-1",
            "uniprot_ac": "Q1MTI4",
            "uniprot_id": "TPISA_DANRE",
            "refseq_ac": "NP_705953",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triosephosphate isomerase A",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.3",
                    "type": "synonym"
                },
                {
                    "name": "5.3.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Methylglyoxal synthase A",
                    "type": "synonym"
                },
                {
                    "name": "TIM-A",
                    "type": "synonym"
                },
                {
                    "name": "Triose-phosphate isomerase A",
                    "type": "synonym"
                },
                {
                    "name": "methylglyoxal synthase A",
                    "type": "synonym"
                },
                {
                    "name": "triose-phosphate isomerase A",
                    "type": "synonym"
                },
                {
                    "name": "triosephosphate isomerase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tpi1a",
                    "type": "recommended"
                },
                {
                    "name": "DrTPI-A",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-89b17.2",
                    "type": "synonym"
                },
                {
                    "name": "tpi1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1MTI4-1",
            "evidence": [
                {
                    "id": "0050884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17751-1",
            "uniprot_ac": "P17751",
            "uniprot_id": "TPIS_MOUSE",
            "refseq_ac": "NP_033441",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triosephosphate isomerase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.3",
                    "type": "synonym"
                },
                {
                    "name": "5.3.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Methylglyoxal synthase",
                    "type": "synonym"
                },
                {
                    "name": "TIM",
                    "type": "synonym"
                },
                {
                    "name": "Triose-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "methylglyoxal synthase",
                    "type": "synonym"
                },
                {
                    "name": "triose-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "triosephosphate isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpi1",
                    "type": "recommended"
                },
                {
                    "name": "TIM",
                    "type": "synonym"
                },
                {
                    "name": "Tpi-1",
                    "type": "synonym"
                },
                {
                    "name": "Tpi1",
                    "type": "synonym"
                },
                {
                    "name": "Tpi",
                    "type": "synonym"
                }
            ],
            "record_id": "P17751-1",
            "evidence": [
                {
                    "id": "0050884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60174-1",
            "uniprot_ac": "P60174",
            "uniprot_id": "TPIS_HUMAN",
            "refseq_ac": "NP_000356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triosephosphate isomerase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.3",
                    "type": "synonym"
                },
                {
                    "name": "5.3.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Methylglyoxal synthase",
                    "type": "synonym"
                },
                {
                    "name": "TIM",
                    "type": "synonym"
                },
                {
                    "name": "Triose-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 49",
                    "type": "synonym"
                },
                {
                    "name": "methylglyoxal synthase",
                    "type": "synonym"
                },
                {
                    "name": "triose-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "triosephosphate isomerase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPI1",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-49",
                    "type": "synonym"
                },
                {
                    "name": "TIM",
                    "type": "synonym"
                },
                {
                    "name": "TPI1",
                    "type": "synonym"
                },
                {
                    "name": "TPID",
                    "type": "synonym"
                },
                {
                    "name": "TPI",
                    "type": "synonym"
                }
            ],
            "record_id": "P60174-1",
            "evidence": [
                {
                    "id": "615512",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615512"
                },
                {
                    "id": "0050884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00942-1",
            "uniprot_ac": "P00942",
            "uniprot_id": "TPIS_YEAST",
            "refseq_ac": "NP_010335",
            "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": "Triosephosphate isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.1",
                    "type": "synonym"
                },
                {
                    "name": "TIM",
                    "type": "synonym"
                },
                {
                    "name": "Triose-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "triose-phosphate isomerase TPI1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPI1",
                    "type": "recommended"
                },
                {
                    "name": "TPI1",
                    "type": "synonym"
                },
                {
                    "name": "YD9609.05C",
                    "type": "synonym"
                }
            ],
            "record_id": "P00942-1",
            "evidence": [
                {
                    "id": "0050884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LJE4-1",
            "uniprot_ac": "A0ABK0LJE4",
            "uniprot_id": "A0ABK0LJE4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triosephosphate isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpi1l1",
                    "type": "recommended"
                },
                {
                    "name": "LOC500959",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LJE4-1",
            "evidence": [
                {
                    "id": "0050884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48500-1",
            "uniprot_ac": "P48500",
            "uniprot_id": "TPIS_RAT",
            "refseq_ac": "NP_075211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triosephosphate isomerase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.3.3",
                    "type": "synonym"
                },
                {
                    "name": "5.3.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Methylglyoxal synthase",
                    "type": "synonym"
                },
                {
                    "name": "TIM",
                    "type": "synonym"
                },
                {
                    "name": "Triose-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "methylglyoxal synthase",
                    "type": "synonym"
                },
                {
                    "name": "triose-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "triosephosphate isomerase-like",
                    "type": "synonym"
                },
                {
                    "name": "triosephosphate isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpi1l2",
                    "type": "recommended"
                },
                {
                    "name": "Tpi1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563601",
                    "type": "synonym"
                },
                {
                    "name": "Tpi1l2",
                    "type": "synonym"
                },
                {
                    "name": "Tpi1",
                    "type": "synonym"
                },
                {
                    "name": "Tpi",
                    "type": "synonym"
                }
            ],
            "record_id": "P48500-1",
            "evidence": [
                {
                    "id": "0050884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29613-2",
            "uniprot_ac": "P29613",
            "uniprot_id": "TPIS_DROME",
            "refseq_ac": "NP_788764",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triosephosphate isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG2171-PA",
                    "type": "synonym"
                },
                {
                    "name": "TIM",
                    "type": "synonym"
                },
                {
                    "name": "Tpi-PA",
                    "type": "synonym"
                },
                {
                    "name": "Triose-phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "neurodegeneration 14",
                    "type": "synonym"
                },
                {
                    "name": "sugarkill",
                    "type": "synonym"
                },
                {
                    "name": "triose phosphate isomerase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "triose phosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "triosephosphate isomerase",
                    "type": "synonym"
                },
                {
                    "name": "wasted away",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpi",
                    "type": "recommended"
                },
                {
                    "name": "CG2171",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2171",
                    "type": "synonym"
                },
                {
                    "name": "ND14",
                    "type": "synonym"
                },
                {
                    "name": "TPIS",
                    "type": "synonym"
                },
                {
                    "name": "TPI",
                    "type": "synonym"
                },
                {
                    "name": "Tpi",
                    "type": "synonym"
                },
                {
                    "name": "sgk",
                    "type": "synonym"
                },
                {
                    "name": "tpi",
                    "type": "synonym"
                },
                {
                    "name": "wstd",
                    "type": "synonym"
                }
            ],
            "record_id": "P29613-2",
            "evidence": [
                {
                    "id": "0050884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050884"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050884"
}