{
    "disease_id": "DOID:0080699",
    "recommended_name": {
        "id": "DOID:0080699",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080699",
        "name": "glutathione synthetase deficiency",
        "description": "An amino acid metabolic disorder characterized by the lack of glutathione production."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0081034",
            "label": "glutatione synthetase deficiency with 5-oxoprolinuria",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112252",
            "label": "congenital nonspherocytic hemolytic anemia 6",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080699",
        "DOID:0081034",
        "DOID:0112252"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080699",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080699",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51855-1",
            "uniprot_ac": "P51855",
            "uniprot_id": "GSHB_MOUSE",
            "refseq_ac": "NP_032206",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutathione synthetase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.3",
                    "type": "synonym"
                },
                {
                    "name": "GSH synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GSH-S",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthetase isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gss",
                    "type": "recommended"
                },
                {
                    "name": "GS-A/GS-B",
                    "type": "synonym"
                },
                {
                    "name": "GSH-S",
                    "type": "synonym"
                },
                {
                    "name": "Gss",
                    "type": "synonym"
                }
            ],
            "record_id": "P51855-1",
            "evidence": [
                {
                    "id": "0080699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08220-1",
            "uniprot_ac": "Q08220",
            "uniprot_id": "GSHB_YEAST",
            "refseq_ac": "NP_014593",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutathione synthetase GSH2",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.3",
                    "type": "synonym"
                },
                {
                    "name": "GSH synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GSH-S",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GSH2",
                    "type": "recommended"
                },
                {
                    "name": "GSH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08220-1",
            "evidence": [
                {
                    "id": "0080699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46413-1",
            "uniprot_ac": "P46413",
            "uniprot_id": "GSHB_RAT",
            "refseq_ac": "NP_037094",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutathione synthetase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.3",
                    "type": "synonym"
                },
                {
                    "name": "GSH synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GSH-S",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gss",
                    "type": "recommended"
                },
                {
                    "name": "Gss",
                    "type": "synonym"
                }
            ],
            "record_id": "P46413-1",
            "evidence": [
                {
                    "id": "0080699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86B44-1",
            "uniprot_ac": "Q86B44",
            "uniprot_id": "Q86B44_DROME",
            "refseq_ac": "NP_728118",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutathione synthetase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.3",
                    "type": "synonym"
                },
                {
                    "name": "CG32495-PH",
                    "type": "synonym"
                },
                {
                    "name": "GSH-S",
                    "type": "synonym"
                },
                {
                    "name": "Gss2-PH",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthetase 2, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gss1",
                    "type": "recommended"
                },
                {
                    "name": "Gss2",
                    "type": "recommended"
                },
                {
                    "name": "32495",
                    "type": "synonym"
                },
                {
                    "name": "6835",
                    "type": "synonym"
                },
                {
                    "name": "CG32495",
                    "type": "synonym"
                },
                {
                    "name": "CG32497",
                    "type": "synonym"
                },
                {
                    "name": "CG33065",
                    "type": "synonym"
                },
                {
                    "name": "CG6835",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6835",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32495",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6835",
                    "type": "synonym"
                },
                {
                    "name": "GSS",
                    "type": "synonym"
                },
                {
                    "name": "GS",
                    "type": "synonym"
                },
                {
                    "name": "Gss1",
                    "type": "synonym"
                },
                {
                    "name": "Gss2",
                    "type": "synonym"
                },
                {
                    "name": "gss",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86B44-1",
            "evidence": [
                {
                    "id": "0080699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75925-1",
            "uniprot_ac": "O75925",
            "uniprot_id": "PIAS1_HUMAN",
            "refseq_ac": "NP_001307616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase PIAS1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "AR interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H box-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase PIAS1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase PIAS1",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase PIAS1",
                    "type": "synonym"
                },
                {
                    "name": "GBP",
                    "type": "synonym"
                },
                {
                    "name": "Gu-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein inhibitor of activated STAT protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA helicase II-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "gu-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein inhibitor of activated STAT protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, MIZ-type containing 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIAS1",
                    "type": "recommended"
                },
                {
                    "name": "DDXBP1",
                    "type": "synonym"
                },
                {
                    "name": "GBP",
                    "type": "synonym"
                },
                {
                    "name": "GU/RH-II",
                    "type": "synonym"
                },
                {
                    "name": "PIAS1",
                    "type": "synonym"
                },
                {
                    "name": "ZMIZ3",
                    "type": "synonym"
                }
            ],
            "record_id": "O75925-1",
            "evidence": [
                {
                    "id": "0080699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080699"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48637-1",
            "uniprot_ac": "P48637",
            "uniprot_id": "GSHB_HUMAN",
            "refseq_ac": "NP_000169",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutathione synthetase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.3",
                    "type": "synonym"
                },
                {
                    "name": "GSH synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GSH-S",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GSS",
                    "type": "recommended"
                },
                {
                    "name": "CNSHA6",
                    "type": "synonym"
                },
                {
                    "name": "GSHS",
                    "type": "synonym"
                },
                {
                    "name": "GSS",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-64p",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-88n",
                    "type": "synonym"
                }
            ],
            "record_id": "P48637-1",
            "evidence": [
                {
                    "id": "0080699",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080699"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080699"
}