{
    "disease_id": "DOID:0112252",
    "recommended_name": {
        "id": "DOID:0112252",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112252",
        "name": "congenital nonspherocytic hemolytic anemia 6",
        "description": "A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22."
    },
    "synonyms": [
        {
            "id": "DOID:0112252",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112252",
            "name": "glutathione synthetase deficiency without 5-oxoprolinuria",
            "description": ""
        },
        {
            "id": "DOID:0112252",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112252",
            "name": "glutathione synthetase deficiency of erythrocytes",
            "description": ""
        },
        {
            "id": "MONDO:0009284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009284",
            "name": "glutathione synthetase deficiency without 5-oxoprolinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009284",
            "name": "CNSHA6",
            "description": ""
        },
        {
            "id": "MONDO:0009284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009284",
            "name": "GSSDE",
            "description": ""
        },
        {
            "id": "MONDO:0009284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009284",
            "name": "anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient",
            "description": ""
        },
        {
            "id": "MONDO:0009284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009284",
            "name": "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0009284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009284",
            "name": "hemolytic anaemia due to glutathione synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009284",
            "name": "hemolytic anemia due to glutathione synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009284",
            "name": "glutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to",
            "description": ""
        },
        {
            "id": "MIM:231900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231900",
            "name": "Anemia, congenital, non-spherocytic hemolytic, 6",
            "description": "Anemia, congenital, non-spherocytic hemolytic, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112252"
    ],
    "unlinked_id_list": []
}