{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111681",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111681",
            "categories": []
        },
        {
            "id": "MONDO:0009259",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009259",
            "categories": []
        },
        {
            "id": "MIM:230450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/230450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97494-1",
            "uniprot_ac": "P97494",
            "uniprot_id": "GSH1_MOUSE",
            "refseq_ac": "NP_034425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate--cysteine ligase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "GCS heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ECS",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "gamma GCS-HS",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ECS",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamylcysteine synthetase heavy subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--cysteine ligase catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gclc",
                    "type": "recommended"
                },
                {
                    "name": "D9Wsu168e",
                    "type": "synonym"
                },
                {
                    "name": "GLCL-H",
                    "type": "synonym"
                },
                {
                    "name": "Gclc",
                    "type": "synonym"
                },
                {
                    "name": "Ggcs-hs",
                    "type": "synonym"
                },
                {
                    "name": "Glclc",
                    "type": "synonym"
                }
            ],
            "record_id": "P97494-1",
            "evidence": [
                {
                    "id": "0111681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48506-1",
            "uniprot_ac": "P48506",
            "uniprot_id": "GSH1_HUMAN",
            "refseq_ac": "NP_001184044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate--cysteine ligase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "GCS heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ECS",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ECS",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--cysteine ligase catalytic subunit isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCLC",
                    "type": "recommended"
                },
                {
                    "name": "CNSHA7",
                    "type": "synonym"
                },
                {
                    "name": "GCLC",
                    "type": "synonym"
                },
                {
                    "name": "GCL",
                    "type": "synonym"
                },
                {
                    "name": "GCS",
                    "type": "synonym"
                },
                {
                    "name": "GLCLC",
                    "type": "synonym"
                },
                {
                    "name": "GLCL",
                    "type": "synonym"
                }
            ],
            "record_id": "P48506-1",
            "evidence": [
                {
                    "id": "230450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/230450"
                },
                {
                    "id": "0111681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32477-1",
            "uniprot_ac": "P32477",
            "uniprot_id": "GSH1_YEAST",
            "refseq_ac": "NP_012434",
            "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": "Glutamate--cysteine ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "GCS",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ECS",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--cysteine ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GSH1",
                    "type": "recommended"
                },
                {
                    "name": "GSH1",
                    "type": "synonym"
                },
                {
                    "name": "J0832",
                    "type": "synonym"
                }
            ],
            "record_id": "P32477-1",
            "evidence": [
                {
                    "id": "0111681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19468-1",
            "uniprot_ac": "P19468",
            "uniprot_id": "GSH1_RAT",
            "refseq_ac": "NP_036947",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate--cysteine ligase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "GCS heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ECS",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamylcysteine gamma synthetase light chain",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ECS",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--cysteine ligase catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gclc",
                    "type": "recommended"
                },
                {
                    "name": "Gclc",
                    "type": "synonym"
                },
                {
                    "name": "Glclc",
                    "type": "synonym"
                }
            ],
            "record_id": "P19468-1",
            "evidence": [
                {
                    "id": "0111681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3K5-1",
            "uniprot_ac": "Q9W3K5",
            "uniprot_id": "GSH1_DROME",
            "refseq_ac": "NP_001285001",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate--cysteine ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "CG2259-PC",
                    "type": "synonym"
                },
                {
                    "name": "GCS",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ECS",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Gclc-PC",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-cysteine ligase catalytic subunit, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "catalytic subunit of glutamate- cysteine ligase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Glutamylcysteine synthetase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamylcysteine ligase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate cysteine ligase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-cysteine ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gclc",
                    "type": "recommended"
                },
                {
                    "name": "2259",
                    "type": "synonym"
                },
                {
                    "name": "CG2259",
                    "type": "synonym"
                },
                {
                    "name": "DmGCLC",
                    "type": "synonym"
                },
                {
                    "name": "DmGCSh",
                    "type": "synonym"
                },
                {
                    "name": "DmGCS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2259",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2259",
                    "type": "synonym"
                },
                {
                    "name": "GCLC",
                    "type": "synonym"
                },
                {
                    "name": "GCLc",
                    "type": "synonym"
                },
                {
                    "name": "GCL",
                    "type": "synonym"
                },
                {
                    "name": "GCSh",
                    "type": "synonym"
                },
                {
                    "name": "GclC",
                    "type": "synonym"
                },
                {
                    "name": "Gclc",
                    "type": "synonym"
                },
                {
                    "name": "Gcsh",
                    "type": "synonym"
                },
                {
                    "name": "Gcs",
                    "type": "synonym"
                },
                {
                    "name": "gclC",
                    "type": "synonym"
                },
                {
                    "name": "gclc",
                    "type": "synonym"
                },
                {
                    "name": "mTOR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3K5-1",
            "evidence": [
                {
                    "id": "0111681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111681"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111681"
}