{
    "disease_id": "DOID:0061080",
    "recommended_name": {
        "id": "DOID:0061080",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061080",
        "name": "immunodeficiency 114",
        "description": "A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0061080",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061080",
            "name": "folate-responsive immunodeficiency 114",
            "description": ""
        },
        {
            "id": "MONDO:0957955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957955",
            "name": "immunodeficiency 114, folate-responsive",
            "description": ""
        },
        {
            "id": "MIM:620603",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620603",
            "name": "Immunodeficiency 114, folate-responsive",
            "description": "Immunodeficiency 114, folate-responsive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061080"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061080",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061080",
            "categories": []
        },
        {
            "id": "MONDO:0957955",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957955",
            "categories": []
        },
        {
            "id": "MIM:620603",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620603",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2A7-1",
            "uniprot_ac": "E7F2A7",
            "uniprot_id": "E7F2A7_DANRE",
            "refseq_ac": "XP_009300585",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reduced folate transporter",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc19a1",
                    "type": "recommended"
                },
                {
                    "name": "slc19a1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2A7-1",
            "evidence": [
                {
                    "id": "0061080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41438-1",
            "uniprot_ac": "P41438",
            "uniprot_id": "S19A1_MOUSE",
            "refseq_ac": "NP_001186200",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reduced folate transporter",
                    "type": "recommended"
                },
                {
                    "name": "IFC-1",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane folate antiporter SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "RFC-1",
                    "type": "synonym"
                },
                {
                    "name": "RFC1",
                    "type": "synonym"
                },
                {
                    "name": "Reduced folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 19 member 1",
                    "type": "synonym"
                },
                {
                    "name": "folate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "intestinal folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "intestinal folate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane folate antiporter SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter isoform a",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 (sodium/hydrogen exchanger), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc19a1",
                    "type": "recommended"
                },
                {
                    "name": "RFC-1",
                    "type": "synonym"
                },
                {
                    "name": "RFC1",
                    "type": "synonym"
                },
                {
                    "name": "RFC",
                    "type": "synonym"
                },
                {
                    "name": "Slc19a1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061080",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41440-1",
            "uniprot_ac": "P41440",
            "uniprot_id": "S19A1_HUMAN",
            "refseq_ac": "NP_001192135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Reduced folate transporter",
                    "type": "recommended"
                },
                {
                    "name": "Cyclic dinucleotide:anion antiporter SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "FOLT",
                    "type": "synonym"
                },
                {
                    "name": "Folate:anion antiporter SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "IFC-1",
                    "type": "synonym"
                },
                {
                    "name": "Intestinal folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Placental folate transporter",
                    "type": "synonym"
                },
                {
                    "name": "RFC",
                    "type": "synonym"
                },
                {
                    "name": "RFT-1",
                    "type": "synonym"
                },
                {
                    "name": "Reduced folate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "Reduced folate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 19 member 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic dinucleotide:anion antiporter SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "folate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "folate:anion antiporter SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "hRFC",
                    "type": "synonym"
                },
                {
                    "name": "hSLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "intestinal folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "placental folate transporter",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "reduced folate transporter isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 19 (folate transporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC19A1",
                    "type": "recommended"
                },
                {
                    "name": "CHMD",
                    "type": "synonym"
                },
                {
                    "name": "FLOT1",
                    "type": "synonym"
                },
                {
                    "name": "FOLT",
                    "type": "synonym"
                },
                {
                    "name": "IFC-1",
                    "type": "synonym"
                },
                {
                    "name": "IFC1",
                    "type": "synonym"
                },
                {
                    "name": "IMD114",
                    "type": "synonym"
                },
                {
                    "name": "MEGAF",
                    "type": "synonym"
                },
                {
                    "name": "REFC",
                    "type": "synonym"
                },
                {
                    "name": "RFC1",
                    "type": "synonym"
                },
                {
                    "name": "RFC",
                    "type": "synonym"
                },
                {
                    "name": "RFT-1",
                    "type": "synonym"
                },
                {
                    "name": "SLC19A1",
                    "type": "synonym"
                },
                {
                    "name": "hRFC",
                    "type": "synonym"
                },
                {
                    "name": "hSLC19A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P41440-1",
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                {
                    "id": "620603",
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                    "url": "https://www.omim.org/entry/620603"
                },
                {
                    "id": "0061080",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061080"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62866-1",
            "uniprot_ac": "Q62866",
            "uniprot_id": "S19A1_RAT",
            "refseq_ac": "NP_001030309",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Reduced folate transporter",
                    "type": "recommended"
                },
                {
                    "name": "MTX-1",
                    "type": "synonym"
                },
                {
                    "name": "MTX1",
                    "type": "synonym"
                },
                {
                    "name": "Methotrexate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane folate antiporter SLC19A1",
                    "type": "synonym"
                },
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                },
                {
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                },
                {
                    "name": "Reduced folate carrier 1",
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                {
                    "name": "Solute carrier family 19 member 1",
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                {
                    "name": "folate transporter 1",
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                    "name": "methotrexate carrier 1",
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                },
                {
                    "name": "methotrexate carrier 2",
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                },
                {
                    "name": "methotrexate carrier 5",
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                },
                {
                    "name": "methotrexate carrier 6",
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                },
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                    "name": "plasma membrane folate antiporter SLC19A1",
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                },
                {
                    "name": "reduced folate carrier 1",
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                },
                {
                    "name": "reduced folate transporter",
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                },
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                    "name": "solute carrier family 19 (folate transporter), member 1",
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                {
                    "name": "solute carrier family 19 (sodium/hydrogen exchanger), member 1",
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                }
            ],
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                {
                    "name": "Slc19a1",
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                    "name": "MTX-1",
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                },
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                {
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                    "id": "0061080",
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                }
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Thiamine transporter 1",
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                    "name": "CG14694-PA",
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                    "name": "uncharacterized protein",
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            ],
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                {
                    "name": "Dmel\\CG14694",
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                {
                    "name": "CG14694",
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                },
                {
                    "name": "Dmel\\CG14694",
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                {
                    "name": "Dmel_CG14694",
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                    "id": "0061080",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Thiamine transporter 1",
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                    "name": "CG6574-PA",
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                    "name": "uncharacterized protein",
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                }
            ],
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                    "name": "Dmel\\CG6574",
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                    "name": "CG6574",
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                },
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                    "name": "Dmel\\CG6574",
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                    "name": "Dmel_CG6574",
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                    "id": "0061080",
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            "uniprot_canonical_ac": "Q9VK64-1",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Thiamine transporter 1",
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                    "name": "CG17036-PB",
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                    "name": "uncharacterized protein, isoform B",
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                }
            ],
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                    "name": "Dmel\\CG17036",
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                    "name": "CG17036",
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                {
                    "name": "Dmel\\CG17036",
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                {
                    "name": "Dmel_CG17036",
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                    "id": "0061080",
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            ]
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            "uniprot_canonical_ac": "Q08830-1",
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Fibrinogen-like protein 1",
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                    "name": "HFREP-1",
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                },
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                    "name": "HP-041",
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                {
                    "name": "HPS",
                    "type": "synonym"
                },
                {
                    "name": "Hepassocin",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte-derived fibrinogen-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LFIRE-1",
                    "type": "synonym"
                },
                {
                    "name": "Liver fibrinogen-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fibrinogen-like protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibrinogen-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hepassocin",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma-related sequence",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte-derived fibrinogen-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "liver fibrinogen-related protein 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "FGL1",
                    "type": "recommended"
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                    "name": "FGL1",
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                },
                {
                    "name": "HFREP1",
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                {
                    "name": "HP-041",
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                },
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                    "name": "HPS",
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                    "name": "LFIRE-1",
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                {
                    "name": "LFIRE1",
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                    "id": "0061080",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061080"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061080"
}