{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111679",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111679",
            "categories": []
        },
        {
            "id": "MONDO:0009240",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009240",
            "categories": []
        },
        {
            "id": "MIM:229100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/229100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PIL2-1",
            "uniprot_ac": "A0A8M1PIL2",
            "uniprot_id": "A0A8M1PIL2_DANRE",
            "refseq_ac": "NP_957371",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formimidoyltransferase-cyclodeaminase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.2.5",
                    "type": "synonym"
                },
                {
                    "name": "4.3.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotransferase-cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "formimidoyltransferase-cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "formiminotransferase cyclodeaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ftcd",
                    "type": "recommended"
                },
                {
                    "name": "ftcd",
                    "type": "synonym"
                },
                {
                    "name": "wu:fp37b11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63647",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PIL2-1",
            "evidence": [
                {
                    "id": "0111679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91XD4-1",
            "uniprot_ac": "Q91XD4",
            "uniprot_id": "FTCD_MOUSE",
            "refseq_ac": "NP_543121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formimidoyltransferase-cyclodeaminase",
                    "type": "recommended"
                },
                {
                    "name": "FTCD",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotetrahydrofolate cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotransferase-cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate formiminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate formyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "formimidoyltransferase-cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate formiminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ftcd",
                    "type": "recommended"
                },
                {
                    "name": "Ftcd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XD4-1",
            "evidence": [
                {
                    "id": "0111679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95954-1",
            "uniprot_ac": "O95954",
            "uniprot_id": "FTCD_HUMAN",
            "refseq_ac": "NP_001307341",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formimidoyltransferase-cyclodeaminase",
                    "type": "recommended"
                },
                {
                    "name": "FTCD",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotetrahydrofolate cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotransferase-cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate formiminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate formyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "LCHC1",
                    "type": "synonym"
                },
                {
                    "name": "formimidoyltransferase-cyclodeaminase isoform C",
                    "type": "synonym"
                },
                {
                    "name": "formiminotransferase-cyclodeaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FTCD",
                    "type": "recommended"
                },
                {
                    "name": "FTCD",
                    "type": "synonym"
                },
                {
                    "name": "LCHC1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95954-1",
            "evidence": [
                {
                    "id": "229100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/229100"
                },
                {
                    "id": "0111679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88618-1",
            "uniprot_ac": "O88618",
            "uniprot_id": "FTCD_RAT",
            "refseq_ac": "NP_446019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Formimidoyltransferase-cyclodeaminase",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa microtubule-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FTCD",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotetrahydrofolate cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "Formiminotransferase-cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate formiminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate formyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "formimidoyltransferase-cyclodeaminase",
                    "type": "synonym"
                },
                {
                    "name": "formiminotransferase cyclodeaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ftcd",
                    "type": "recommended"
                },
                {
                    "name": "Ftcd",
                    "type": "synonym"
                }
            ],
            "record_id": "O88618-1",
            "evidence": [
                {
                    "id": "0111679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49952-1",
            "uniprot_ac": "P49952",
            "uniprot_id": "WT1_RAT",
            "refseq_ac": "NP_113722",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wilms tumor protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Wilms tumor 1",
                    "type": "synonym"
                },
                {
                    "name": "Wilms tumor protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wt1",
                    "type": "recommended"
                },
                {
                    "name": "Wt-1",
                    "type": "synonym"
                },
                {
                    "name": "Wt1",
                    "type": "synonym"
                }
            ],
            "record_id": "P49952-1",
            "evidence": [
                {
                    "id": "0111679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111679"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111679"
}