{
    "disease_id": "DOID:0111257",
    "recommended_name": {
        "id": "DOID:0111257",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111257",
        "name": "gamma-glutamyl transpeptidase deficiency",
        "description": "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111257",
            "name": "GGT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111257",
            "name": "GGT1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111257",
            "name": "GTG deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111257",
            "name": "gamma-glutamyl transferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111257",
            "name": "glutathionuria",
            "description": ""
        },
        {
            "id": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "gamma-glutamyl transpeptidase deficiency",
            "description": "Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine."
        },
        {
            "id": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "glutathioninuria",
            "description": ""
        },
        {
            "id": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "glutathionuria",
            "description": ""
        },
        {
            "id": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "inborn error of glutathione hydrolase activity",
            "description": ""
        },
        {
            "id": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "inborn glutathione hydrolase activity disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "rare inborn error of glutathione hydrolase activity",
            "description": ""
        },
        {
            "id": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "GGT1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:231950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231950",
            "name": "Glutathionuria",
            "description": "Glutathionuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111257"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111257",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111257",
            "categories": []
        },
        {
            "id": "MONDO:0009285",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "categories": []
        },
        {
            "id": "MIM:231950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/231950",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6V1-1",
            "uniprot_ac": "A0ACD6B6V1",
            "uniprot_id": "A0ACD6B6V1_DANRE",
            "refseq_ac": "XP_697468",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Glutathione hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.13",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltranspeptidase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione hydrolase 1 proenzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ggt1b",
                    "type": "recommended"
                },
                {
                    "name": "ggt1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6V1-1",
            "evidence": [
                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QIG6-1",
            "uniprot_ac": "A0A8M9QIG6",
            "uniprot_id": "A0A8M9QIG6_DANRE",
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            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Glutathione hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.13",
                    "type": "synonym"
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                {
                    "name": "Gamma-glutamyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltranspeptidase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione hydrolase 1 proenzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-222h21.12",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-222h21.12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QIG6-1",
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                {
                    "id": "0111257",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6YZQ0-1",
            "uniprot_ac": "A0A8M6YZQ0",
            "uniprot_id": "A0A8M6YZQ0_DANRE",
            "refseq_ac": "XP_017212782",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Glutathione hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.13",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltranspeptidase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamyltransferase 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ggt1a",
                    "type": "recommended"
                },
                {
                    "name": "ggt1a",
                    "type": "synonym"
                },
                {
                    "name": "ggt1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64172",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YZQ0-1",
            "evidence": [
                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60928-1",
            "uniprot_ac": "Q60928",
            "uniprot_id": "GGT1_MOUSE",
            "refseq_ac": "NP_001292921",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutathione hydrolase 1 proenzyme",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.13",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.14",
                    "type": "synonym"
                },
                {
                    "name": "GGT 1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltranspeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Leukotriene-C4 hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamyltranspeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutathione hydrolase 1 proenzyme precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutathione hydrolase 1 proenzyme",
                    "type": "synonym"
                },
                {
                    "name": "leukotriene-C4 hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ggt1",
                    "type": "recommended"
                },
                {
                    "name": "CD224",
                    "type": "synonym"
                },
                {
                    "name": "GGT 1",
                    "type": "synonym"
                },
                {
                    "name": "GGT-1",
                    "type": "synonym"
                },
                {
                    "name": "GGT",
                    "type": "synonym"
                },
                {
                    "name": "Ggt1",
                    "type": "synonym"
                },
                {
                    "name": "Ggtp",
                    "type": "synonym"
                },
                {
                    "name": "Ggt",
                    "type": "synonym"
                },
                {
                    "name": "dwg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60928-1",
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                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19440-1",
            "uniprot_ac": "P19440",
            "uniprot_id": "GGT1_HUMAN",
            "refseq_ac": "NP_001275762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutathione hydrolase 1 proenzyme",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.13",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.14",
                    "type": "synonym"
                },
                {
                    "name": "GGT 1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltranspeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Leukotriene-C4 hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamyltranspeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutathione hydrolase 1 proenzyme precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutathione hydrolase 1 proenzyme",
                    "type": "synonym"
                },
                {
                    "name": "leukotriene-C4 hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 73",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GGT1",
                    "type": "recommended"
                },
                {
                    "name": "CD224",
                    "type": "synonym"
                },
                {
                    "name": "D22S672",
                    "type": "synonym"
                },
                {
                    "name": "D22S732",
                    "type": "synonym"
                },
                {
                    "name": "GGT 1",
                    "type": "synonym"
                },
                {
                    "name": "GGT1",
                    "type": "synonym"
                },
                {
                    "name": "GGTD",
                    "type": "synonym"
                },
                {
                    "name": "GGT",
                    "type": "synonym"
                },
                {
                    "name": "GTG",
                    "type": "synonym"
                }
            ],
            "record_id": "P19440-1",
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                {
                    "id": "231950",
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                    "url": "https://www.omim.org/entry/231950"
                },
                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q05902-1",
            "uniprot_ac": "Q05902",
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            "refseq_ac": "NP_013402",
            "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 hydrolase proenzyme",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.2",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.13",
                    "type": "synonym"
                },
                {
                    "name": "CIK1 suppressor protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular mutant protein 38",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-GT",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltranspeptidase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ECM38",
                    "type": "recommended"
                },
                {
                    "name": "CIS2",
                    "type": "synonym"
                },
                {
                    "name": "ECM38",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05902-1",
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                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07314-1",
            "uniprot_ac": "P07314",
            "uniprot_id": "GGT1_RAT",
            "refseq_ac": "NP_446292",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutathione hydrolase 1 proenzyme",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.2",
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                    "name": "3.4.19.13",
                    "type": "synonym"
                },
                {
                    "name": "3.4.19.14",
                    "type": "synonym"
                },
                {
                    "name": "GGT 1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-glutamyltranspeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "Leukotriene-C4 hydrolase",
                    "type": "synonym"
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                {
                    "name": "gamma glutamyl-transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamyl transpeptidase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-glutamyltranspeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutathione hydrolase 1 proenzyme precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutathione hydrolase 1 proenzyme",
                    "type": "synonym"
                },
                {
                    "name": "leukotriene-C4 hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ggt1",
                    "type": "recommended"
                },
                {
                    "name": "GGLUT",
                    "type": "synonym"
                },
                {
                    "name": "Ggt1",
                    "type": "synonym"
                },
                {
                    "name": "Ggtp",
                    "type": "synonym"
                },
                {
                    "name": "Ggt",
                    "type": "synonym"
                }
            ],
            "record_id": "P07314-1",
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                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9NFP5-1",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17636-PC",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG17636",
                    "type": "recommended"
                },
                {
                    "name": "CG17636",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17636",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17636",
                    "type": "synonym"
                },
                {
                    "name": "EG:23E12.1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYR2-1",
            "uniprot_ac": "Q9VYR2",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG1492-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1492",
                    "type": "recommended"
                },
                {
                    "name": "CG1492",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1492",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1492",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYR2-1",
            "evidence": [
                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KUX2-1",
            "uniprot_ac": "Q7KUX2",
            "uniprot_id": "Q7KUX2_DROME",
            "refseq_ac": "NP_728030",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4829-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4829",
                    "type": "recommended"
                },
                {
                    "name": "CG4829",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4829",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4829",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KUX2-1",
            "evidence": [
                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EP5-1",
            "uniprot_ac": "Q96EP5",
            "uniprot_id": "DAZP1_HUMAN",
            "refseq_ac": "NP_061832",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DAZ-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "DAZ-associated protein 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Deleted in azoospermia-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "deleted in azoospermia-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAZAP1",
                    "type": "recommended"
                },
                {
                    "name": "DAZAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EP5-1",
            "evidence": [
                {
                    "id": "0111257",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111257"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111257"
}