{
    "disease_id": "DOID:0111681",
    "recommended_name": {
        "id": "DOID:0111681",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111681",
        "name": "congenital nonspherocytic hemolytic anemia 7",
        "description": "An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111681",
            "name": "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111681",
            "name": "gamma-glutamylcysteine synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "gamma-glutamylcysteine synthetase deficiency",
            "description": "A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported."
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "anemia, congenital, nonspherocytic hemolytic, 7",
            "description": ""
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to",
            "description": ""
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "glutamate-cysteine ligase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "inborn error of glutamate-cysteine ligase activity",
            "description": ""
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "inborn glutamate-cysteine ligase activity disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "name": "rare inborn error of glutamate-cysteine ligase activity",
            "description": ""
        },
        {
            "id": "MIM:230450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/230450",
            "name": "Anemia, congenital, non-spherocytic hemolytic, 7",
            "description": "Anemia, congenital, non-spherocytic hemolytic, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111681"
    ],
    "unlinked_id_list": []
}