{
    "disease_id": "DOID:0111679",
    "recommended_name": {
        "id": "DOID:0111679",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111679",
        "name": "glutamate formiminotransferase deficiency",
        "description": "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111679",
            "name": "Arakawa syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0111679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111679",
            "name": "FTCD deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111679",
            "name": "formiminoglutamic acidemia",
            "description": ""
        },
        {
            "id": "DOID:0111679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111679",
            "name": "formiminoglutamic aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111679",
            "name": "formiminotransferase cyclodeaminase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111679",
            "name": "formiminotransferase deficiency syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111679",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111679",
            "name": "FIGLU-uria",
            "description": ""
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "formiminoglutamic aciduria",
            "description": "Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia."
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "FTCD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "formiminoglutamic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "formiminotransferase cyclodeaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "glutamate formiminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "Arakawa syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "Formiminoglutamicaciduria (FIGLU-Uria)",
            "description": ""
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "formiminoglutamic acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0009240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "name": "formiminotransferase deficiency syndrome",
            "description": ""
        },
        {
            "id": "MIM:229100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/229100",
            "name": "Glutamate formiminotransferase deficiency",
            "description": "Glutamate formiminotransferase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111679"
    ],
    "unlinked_id_list": []
}