{
    "disease_id": "DOID:0111678",
    "recommended_name": {
        "id": "DOID:0111678",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111678",
        "name": "hereditary folate malabsorption",
        "description": "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111678",
            "name": "congenital defect of folate absorption",
            "description": ""
        },
        {
            "id": "DOID:0111678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111678",
            "name": "congenital folate malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0009238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "name": "hereditary folate malabsorption",
            "description": "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders."
        },
        {
            "id": "MONDO:0009238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "name": "congenital folate malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0009238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "name": "congenital defect of folate absorption",
            "description": ""
        },
        {
            "id": "MONDO:0009238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "name": "folic acid transport defect",
            "description": ""
        },
        {
            "id": "MIM:229050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/229050",
            "name": "Hereditary folate malabsorption",
            "description": "Hereditary folate malabsorption"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111678"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111678",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111678",
            "categories": []
        },
        {
            "id": "MONDO:0009238",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009238",
            "categories": []
        },
        {
            "id": "MIM:229050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/229050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZWG6-1",
            "uniprot_ac": "Q7ZWG6",
            "uniprot_id": "PCFT_DANRE",
            "refseq_ac": "NP_956579",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proton-coupled folate transporter",
                    "type": "recommended"
                },
                {
                    "name": "PCFT/HCP1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 46 member 1",
                    "type": "synonym"
                },
                {
                    "name": "heme carrier protein 1",
                    "type": "synonym"
                },
                {
                    "name": "proton-coupled folate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 46 (folate transporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc46a1",
                    "type": "recommended"
                },
                {
                    "name": "pcft",
                    "type": "synonym"
                },
                {
                    "name": "slc46a1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56400",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZWG6-1",
            "evidence": [
                {
                    "id": "0111678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111678"
                }
            ]
        },
        {
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            "uniprot_ac": "Q6PEM8",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                },
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                    "name": "Heme carrier protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PCFT/HCP1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 46 member 1",
                    "type": "synonym"
                },
                {
                    "name": "heme carrier protein 1",
                    "type": "synonym"
                },
                {
                    "name": "proton-coupled folate transporter",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc46a1",
                    "type": "recommended"
                },
                {
                    "name": "1110002C08Rik",
                    "type": "synonym"
                },
                {
                    "name": "D11Ertd18e",
                    "type": "synonym"
                },
                {
                    "name": "HCP1",
                    "type": "synonym"
                },
                {
                    "name": "Hcp1",
                    "type": "synonym"
                },
                {
                    "name": "Pcft",
                    "type": "synonym"
                },
                {
                    "name": "Slc46a1",
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                }
            ],
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                    "id": "0111678",
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                }
            ]
        },
        {
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            "uniprot_ac": "O88855",
            "uniprot_id": "LT4R1_MOUSE",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leukotriene B4 receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "LTB4 receptor",
                    "type": "synonym"
                },
                {
                    "name": "LTB4-R 1",
                    "type": "synonym"
                },
                {
                    "name": "LTB4-R1",
                    "type": "synonym"
                },
                {
                    "name": "leukotriene B4 receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ltb4r",
                    "type": "recommended"
                },
                {
                    "name": "BLT1",
                    "type": "synonym"
                },
                {
                    "name": "BLTR",
                    "type": "synonym"
                },
                {
                    "name": "Bltr",
                    "type": "synonym"
                },
                {
                    "name": "LTB4-R1",
                    "type": "synonym"
                },
                {
                    "name": "Ltb4r1",
                    "type": "synonym"
                },
                {
                    "name": "Ltb4r",
                    "type": "synonym"
                },
                {
                    "name": "mBLTR",
                    "type": "synonym"
                }
            ],
            "record_id": "O88855-1",
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                {
                    "id": "0111678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111678"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96NT5-1",
            "uniprot_ac": "Q96NT5",
            "uniprot_id": "PCFT_HUMAN",
            "refseq_ac": "NP_001229295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proton-coupled folate transporter",
                    "type": "recommended"
                },
                {
                    "name": "Heme carrier protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HsPCFT",
                    "type": "synonym"
                },
                {
                    "name": "PCFT/HCP1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 46 member 1",
                    "type": "synonym"
                },
                {
                    "name": "hPCFT",
                    "type": "synonym"
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                {
                    "name": "heme carrier protein 1",
                    "type": "synonym"
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                    "type": "synonym"
                },
                {
                    "name": "proton-coupled folate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 46 (folate transporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC46A1",
                    "type": "recommended"
                },
                {
                    "name": "G21",
                    "type": "synonym"
                },
                {
                    "name": "HCP1",
                    "type": "synonym"
                },
                {
                    "name": "HsPCFT",
                    "type": "synonym"
                },
                {
                    "name": "PCFT",
                    "type": "synonym"
                },
                {
                    "name": "SLC46A1",
                    "type": "synonym"
                },
                {
                    "name": "hPCFT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96NT5-1",
            "evidence": [
                {
                    "id": "229050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/229050"
                },
                {
                    "id": "0111678",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111678"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46996-1",
            "uniprot_ac": "P46996",
            "uniprot_id": "YJQ3_YEAST",
            "refseq_ac": "NP_012372",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized membrane protein YJL163C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "J0544",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111678",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111678"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5EBA8-1",
            "uniprot_ac": "Q5EBA8",
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            "refseq_ac": "NP_001013991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Proton-coupled folate transporter",
                    "type": "recommended"
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                    "name": "RGD1309472",
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            ],
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                {
                    "id": "0111678",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Proton-coupled folate transporter",
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                    "name": "CG8008-PB",
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                }
            ],
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                {
                    "name": "Dmel\\CG8008",
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                    "name": "CG8008",
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                {
                    "name": "Dmel\\CG8008",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG8008",
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                }
            ],
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                {
                    "id": "0111678",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q9VY22-1",
            "uniprot_ac": "Q9VY22",
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                {
                    "name": "Drosophila melanogaster",
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                }
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                    "name": "Solute carrier family 46 member 3",
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                    "name": "CG15890-PB",
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                }
            ],
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                {
                    "name": "Dmel\\CG15890",
                    "type": "recommended"
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                    "name": "CG15890",
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                {
                    "name": "Dmel\\CG15890",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG15890",
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                }
            ],
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                    "id": "0111678",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111678"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9VA14-1",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Proton-coupled folate transporter",
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                    "name": "CG15553-PC",
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                    "name": "uncharacterized protein",
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                    "name": "Dmel\\CG15553",
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                    "name": "CG15553",
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                {
                    "name": "Dmel\\CG15553",
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                {
                    "name": "Dmel_CG15553",
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                {
                    "id": "0111678",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q0E8E1-1",
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                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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                }
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                    "name": "Proton-coupled folate transporter",
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                    "name": "CG42514-PA",
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                    "name": "AC",
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                    "name": "CG4526",
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                    "name": "AC",
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                    "name": "CG32158",
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                {
                    "name": "CG42514",
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                    "name": "CG4526",
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                    "name": "Dmel\\CG42514",
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                {
                    "name": "Dmel_CG42514",
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            ],
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                    "id": "0111678",
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                }
            ]
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            "uniprot_ac": "A1Z7R6",
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                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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                }
            ],
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                    "name": "Probable peptidoglycan muropeptide transporter SLC46",
                    "type": "recommended"
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                    "name": "CG8046-PA",
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                {
                    "name": "Solute carrier family 46 member",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
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                }
            ],
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                {
                    "name": "SLC46",
                    "type": "recommended"
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                {
                    "name": "CG8046",
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                {
                    "name": "Dmel\\CG8046",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG8046",
                    "type": "synonym"
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                {
                    "name": "SLC46",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111678"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111678"
}