{
    "disease_id": "DOID:0050649",
    "recommended_name": {
        "id": "DOID:0050649",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050649",
        "name": "atransferrinemia",
        "description": "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22."
    },
    "synonyms": [
        {
            "id": "DOID:0050649",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050649",
            "name": "familial hypotransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "atransferrinemia",
            "description": "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated."
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "atransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "congenital atransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "congenital hypotransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "familial hypotransferrinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "name": "hereditary atransferrinemia",
            "description": ""
        },
        {
            "id": "MIM:209300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/209300",
            "name": "Atransferrinemia",
            "description": "Atransferrinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050649"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050649",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050649",
            "categories": []
        },
        {
            "id": "MONDO:0008846",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008846",
            "categories": []
        },
        {
            "id": "MIM:209300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/209300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JL43-1",
            "uniprot_ac": "B8JL43",
            "uniprot_id": "B8JL43_DANRE",
            "refseq_ac": "NP_001278428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serotransferrin",
                    "type": "recommended"
                },
                {
                    "name": "transferrin-a precursor",
                    "type": "synonym"
                },
                {
                    "name": "transferrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tfa",
                    "type": "recommended"
                },
                {
                    "name": "cb285",
                    "type": "synonym"
                },
                {
                    "name": "gavi",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd3238",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd3525",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb285",
                    "type": "synonym"
                },
                {
                    "name": "tfa",
                    "type": "synonym"
                },
                {
                    "name": "trf",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb57g06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb62h02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb63h10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb64h10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112154",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JL43-1",
            "evidence": [
                {
                    "id": "0050649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q921I1-1",
            "uniprot_ac": "Q921I1",
            "uniprot_id": "TRFE_MOUSE",
            "refseq_ac": "NP_598738",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serotransferrin",
                    "type": "recommended"
                },
                {
                    "name": "Beta-1 metal-binding globulin",
                    "type": "synonym"
                },
                {
                    "name": "Siderophilin",
                    "type": "synonym"
                },
                {
                    "name": "Transferrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1 metal-binding globulin",
                    "type": "synonym"
                },
                {
                    "name": "hypotransferrinemia with hemochromatosis",
                    "type": "synonym"
                },
                {
                    "name": "serotransferrin precursor",
                    "type": "synonym"
                },
                {
                    "name": "serotransferrin",
                    "type": "synonym"
                },
                {
                    "name": "siderophilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tf",
                    "type": "recommended"
                },
                {
                    "name": "Trf",
                    "type": "recommended"
                },
                {
                    "name": "Cd176",
                    "type": "synonym"
                },
                {
                    "name": "HP",
                    "type": "synonym"
                },
                {
                    "name": "Tfn",
                    "type": "synonym"
                },
                {
                    "name": "Tf",
                    "type": "synonym"
                },
                {
                    "name": "Trf",
                    "type": "synonym"
                },
                {
                    "name": "hpx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921I1-1",
            "evidence": [
                {
                    "id": "0050649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02787-1",
            "uniprot_ac": "P02787",
            "uniprot_id": "TRFE_HUMAN",
            "refseq_ac": "NP_001054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serotransferrin",
                    "type": "recommended"
                },
                {
                    "name": "Beta-1 metal-binding globulin",
                    "type": "synonym"
                },
                {
                    "name": "Siderophilin",
                    "type": "synonym"
                },
                {
                    "name": "Transferrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1 metal-binding globulin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 71p",
                    "type": "synonym"
                },
                {
                    "name": "serotransferrin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "serotransferrin",
                    "type": "synonym"
                },
                {
                    "name": "siderophilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TF",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-71p",
                    "type": "synonym"
                },
                {
                    "name": "PRO1400",
                    "type": "synonym"
                },
                {
                    "name": "PRO1557",
                    "type": "synonym"
                },
                {
                    "name": "PRO2086",
                    "type": "synonym"
                },
                {
                    "name": "TFQTL1",
                    "type": "synonym"
                },
                {
                    "name": "TF",
                    "type": "synonym"
                }
            ],
            "record_id": "P02787-1",
            "evidence": [
                {
                    "id": "209300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/209300"
                },
                {
                    "id": "0050649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12346-1",
            "uniprot_ac": "P12346",
            "uniprot_id": "TRFE_RAT",
            "refseq_ac": "NP_001013128",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serotransferrin",
                    "type": "recommended"
                },
                {
                    "name": "Beta-1 metal-binding globulin",
                    "type": "synonym"
                },
                {
                    "name": "Liver regeneration-related protein LRRG03",
                    "type": "synonym"
                },
                {
                    "name": "Siderophilin",
                    "type": "synonym"
                },
                {
                    "name": "Transferrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-1 metal-binding globulin",
                    "type": "synonym"
                },
                {
                    "name": "liver regeneration-related protein LRRG03",
                    "type": "synonym"
                },
                {
                    "name": "serotransferrin precursor",
                    "type": "synonym"
                },
                {
                    "name": "serotransferrin",
                    "type": "synonym"
                },
                {
                    "name": "siderophilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tf",
                    "type": "recommended"
                },
                {
                    "name": "Tfn",
                    "type": "synonym"
                },
                {
                    "name": "Tf",
                    "type": "synonym"
                },
                {
                    "name": "Trf",
                    "type": "synonym"
                }
            ],
            "record_id": "P12346-1",
            "evidence": [
                {
                    "id": "0050649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTZ5-1",
            "uniprot_ac": "Q9VTZ5",
            "uniprot_id": "TRFM_DROME",
            "refseq_ac": "NP_524044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin 2",
                    "type": "recommended"
                },
                {
                    "name": "CG10620-PA",
                    "type": "synonym"
                },
                {
                    "name": "Melanotransferrin",
                    "type": "synonym"
                },
                {
                    "name": "Tsf2-PA",
                    "type": "synonym"
                },
                {
                    "name": "melanotransferrin",
                    "type": "synonym"
                },
                {
                    "name": "transferrin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsf2",
                    "type": "recommended"
                },
                {
                    "name": "CG10620",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10620",
                    "type": "synonym"
                },
                {
                    "name": "MTf",
                    "type": "synonym"
                },
                {
                    "name": "Mtf",
                    "type": "synonym"
                },
                {
                    "name": "Tsf2",
                    "type": "synonym"
                },
                {
                    "name": "mtf",
                    "type": "synonym"
                },
                {
                    "name": "tsf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTZ5-1",
            "evidence": [
                {
                    "id": "0050649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAC0-1",
            "uniprot_ac": "A1ZAC0",
            "uniprot_id": "A1ZAC0_DROME",
            "refseq_ac": "NP_523759",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin",
                    "type": "recommended"
                },
                {
                    "name": "CG3666-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tsf3-PA",
                    "type": "synonym"
                },
                {
                    "name": "transferrin 3",
                    "type": "synonym"
                },
                {
                    "name": "transferrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsf3",
                    "type": "recommended"
                },
                {
                    "name": "CG3666",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3666",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3666",
                    "type": "synonym"
                },
                {
                    "name": "Tsf3",
                    "type": "synonym"
                },
                {
                    "name": "tsf3",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAC0-1",
            "evidence": [
                {
                    "id": "0050649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050649"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWV6-1",
            "uniprot_ac": "Q9VWV6",
            "uniprot_id": "Q9VWV6_DROME",
            "refseq_ac": "NP_001285404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin",
                    "type": "recommended"
                },
                {
                    "name": "CG6186-PC",
                    "type": "synonym"
                },
                {
                    "name": "DTAF-transferrin",
                    "type": "synonym"
                },
                {
                    "name": "Transferrin1",
                    "type": "synonym"
                },
                {
                    "name": "Tsf1-PC",
                    "type": "synonym"
                },
                {
                    "name": "transferrin 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "transferrin 1",
                    "type": "synonym"
                },
                {
                    "name": "transferrin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsf1",
                    "type": "recommended"
                },
                {
                    "name": "143958_at",
                    "type": "synonym"
                },
                {
                    "name": "CG6186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6186",
                    "type": "synonym"
                },
                {
                    "name": "TSF1",
                    "type": "synonym"
                },
                {
                    "name": "Tf",
                    "type": "synonym"
                },
                {
                    "name": "Trf",
                    "type": "synonym"
                },
                {
                    "name": "Tsf1",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey265",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9601",
                    "type": "synonym"
                },
                {
                    "name": "tsf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWV6-1",
            "evidence": [
                {
                    "id": "0050649",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050649"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050649"
}