{
    "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": []
}