{
    "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": []
}