{
    "disease_id": "DOID:0111948",
    "recommended_name": {
        "id": "DOID:0111948",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111948",
        "name": "immunodeficiency 46",
        "description": "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0111948",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111948",
            "name": "CID due to TFRC deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111948",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111948",
            "name": "IMD46",
            "description": ""
        },
        {
            "id": "DOID:0111948",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111948",
            "name": "TFRC-related combined immunodeficiency",
            "description": ""
        },
        {
            "id": "DOID:0111948",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111948",
            "name": "combined immunodeficiency due to TFRC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014760",
            "name": "TFRC-related combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014760",
            "name": "CID due to TFRC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014760",
            "name": "IMD46",
            "description": ""
        },
        {
            "id": "MONDO:0014760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014760",
            "name": "immunodeficiency 46",
            "description": ""
        },
        {
            "id": "MONDO:0014760",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014760",
            "name": "immunodeficiency type 46",
            "description": ""
        },
        {
            "id": "MIM:616740",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616740",
            "name": "Immunodeficiency 46",
            "description": "Immunodeficiency 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111948"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111948",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111948",
            "categories": []
        },
        {
            "id": "MONDO:0014760",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014760",
            "categories": []
        },
        {
            "id": "MIM:616740",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616740",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TIL0-1",
            "uniprot_ac": "A0AB32TIL0",
            "uniprot_id": "A0AB32TIL0_DANRE",
            "refseq_ac": "XP_068073161",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin receptor protein 1",
                    "type": "recommended"
                },
                {
                    "name": "transferrin receptor 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tfr1b",
                    "type": "recommended"
                },
                {
                    "name": "tfr1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TIL0-1",
            "evidence": [
                {
                    "id": "0111948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62351-1",
            "uniprot_ac": "Q62351",
            "uniprot_id": "TFR1_MOUSE",
            "refseq_ac": "NP_035768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin receptor protein 1",
                    "type": "recommended"
                },
                {
                    "name": "TR",
                    "type": "synonym"
                },
                {
                    "name": "TfR1",
                    "type": "synonym"
                },
                {
                    "name": "TfR",
                    "type": "synonym"
                },
                {
                    "name": "Trfr",
                    "type": "synonym"
                },
                {
                    "name": "mammary tumor virus receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tfrc",
                    "type": "recommended"
                },
                {
                    "name": "2610028K12Rik",
                    "type": "synonym"
                },
                {
                    "name": "CD71",
                    "type": "synonym"
                },
                {
                    "name": "E430033M20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mtvr1",
                    "type": "synonym"
                },
                {
                    "name": "TFR1",
                    "type": "synonym"
                },
                {
                    "name": "TFR",
                    "type": "synonym"
                },
                {
                    "name": "TR",
                    "type": "synonym"
                },
                {
                    "name": "Tfrc",
                    "type": "synonym"
                },
                {
                    "name": "Trfr",
                    "type": "synonym"
                },
                {
                    "name": "p90",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62351-1",
            "evidence": [
                {
                    "id": "0111948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02786-1",
            "uniprot_ac": "P02786",
            "uniprot_id": "TFR1_HUMAN",
            "refseq_ac": "NP_001121620",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin receptor protein 1",
                    "type": "recommended"
                },
                {
                    "name": "T9",
                    "type": "synonym"
                },
                {
                    "name": "TR",
                    "type": "synonym"
                },
                {
                    "name": "TfR1",
                    "type": "synonym"
                },
                {
                    "name": "TfR",
                    "type": "synonym"
                },
                {
                    "name": "Transferrin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Trfr",
                    "type": "synonym"
                },
                {
                    "name": "p90",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TFRC",
                    "type": "recommended"
                },
                {
                    "name": "CD71",
                    "type": "synonym"
                },
                {
                    "name": "IMD46",
                    "type": "synonym"
                },
                {
                    "name": "T9",
                    "type": "synonym"
                },
                {
                    "name": "TFR1",
                    "type": "synonym"
                },
                {
                    "name": "TFRC",
                    "type": "synonym"
                },
                {
                    "name": "TFR",
                    "type": "synonym"
                },
                {
                    "name": "TRFR",
                    "type": "synonym"
                },
                {
                    "name": "TR",
                    "type": "synonym"
                },
                {
                    "name": "p90",
                    "type": "synonym"
                }
            ],
            "record_id": "P02786-1",
            "evidence": [
                {
                    "id": "616740",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616740"
                },
                {
                    "id": "0111948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47161-1",
            "uniprot_ac": "P47161",
            "uniprot_id": "VPS70_YEAST",
            "refseq_ac": "NP_012660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 70",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "putative zinc metalloprotease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS70",
                    "type": "recommended"
                },
                {
                    "name": "J2050",
                    "type": "synonym"
                },
                {
                    "name": "VPS70",
                    "type": "synonym"
                }
            ],
            "record_id": "P47161-1",
            "evidence": [
                {
                    "id": "0111948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08693-1",
            "uniprot_ac": "Q08693",
            "uniprot_id": "TRE2_YEAST",
            "refseq_ac": "NP_014899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative zinc metalloprotease TRE2",
                    "type": "recommended"
                },
                {
                    "name": "3.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Transferrin receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "putative zinc metalloprotease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRE2",
                    "type": "recommended"
                },
                {
                    "name": "TRE2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08693-1",
            "evidence": [
                {
                    "id": "0111948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111948"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99376-1",
            "uniprot_ac": "Q99376",
            "uniprot_id": "TFR1_RAT",
            "refseq_ac": "NP_073203",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transferrin receptor protein 1",
                    "type": "recommended"
                },
                {
                    "name": "TR",
                    "type": "synonym"
                },
                {
                    "name": "TfR1",
                    "type": "synonym"
                },
                {
                    "name": "TfR",
                    "type": "synonym"
                },
                {
                    "name": "Trfr",
                    "type": "synonym"
                },
                {
                    "name": "tfR1",
                    "type": "synonym"
                },
                {
                    "name": "tfR",
                    "type": "synonym"
                },
                {
                    "name": "transferrin receptor protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tfrc",
                    "type": "recommended"
                },
                {
                    "name": "Tfrc",
                    "type": "synonym"
                },
                {
                    "name": "Trfr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99376-1",
            "evidence": [
                {
                    "id": "0111948",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111948"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111948"
}