{
    "disease_id": "DOID:0111257",
    "recommended_name": {
        "id": "DOID:0111257",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111257",
            "name": "GGT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111257",
            "name": "GGT1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111257",
            "name": "GTG deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111257",
            "name": "gamma-glutamyl transferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111257",
            "resource": "Disease Ontology",
            "url": "http://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": "gamma-glutamyltranspeptidase deficiency",
            "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": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "GGT deficiency",
            "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 glutathione hydrolase activity disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009285",
            "name": "GTG deficiency",
            "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": "gamma-glutamyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MIM:231950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231950",
            "name": "Glutathionuria",
            "description": "Glutathionuria"
        }
    ]
}