{
    "disease_id": "DOID:0061071",
    "recommended_name": {
        "id": "DOID:0061071",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061071",
        "name": "immunodeficiency 101",
        "description": "A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "DOID:0061071",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061071",
            "name": "immunodeficiency 101 varicella zoster virus-specific",
            "description": ""
        },
        {
            "id": "MONDO:0030813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030813",
            "name": "immunodeficiency 101 (varicella zoster virus-specific)",
            "description": ""
        },
        {
            "id": "MONDO:0030813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030813",
            "name": "IMD101",
            "description": ""
        },
        {
            "id": "MONDO:0030813",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030813",
            "name": "immunodeficiency 101 (varicella zoster virus-specific)",
            "description": ""
        },
        {
            "id": "MIM:619872",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619872",
            "name": "Immunodeficiency 101, varicella zoster virus-specific",
            "description": "Immunodeficiency 101, varicella zoster virus-specific"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061071"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061071",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061071",
            "categories": []
        },
        {
            "id": "MONDO:0030813",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030813",
            "categories": []
        },
        {
            "id": "MIM:619872",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619872",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q921X6-1",
            "uniprot_ac": "Q921X6",
            "uniprot_id": "RPC6_MOUSE",
            "refseq_ac": "NP_084039",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC6",
                    "type": "recommended"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit F",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC6",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3f",
                    "type": "recommended"
                },
                {
                    "name": "2810411G20Rik",
                    "type": "synonym"
                },
                {
                    "name": "3010019O03Rik",
                    "type": "synonym"
                },
                {
                    "name": "3110032A07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Polr3f",
                    "type": "synonym"
                },
                {
                    "name": "RPC39",
                    "type": "synonym"
                },
                {
                    "name": "RPC6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921X6-1",
            "evidence": [
                {
                    "id": "0061071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H1D9-1",
            "uniprot_ac": "Q9H1D9",
            "uniprot_id": "RPC6_HUMAN",
            "refseq_ac": "NP_001269455",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC6",
                    "type": "recommended"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit F",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC6",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III 39 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III C39 subunit",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C6",
                    "type": "synonym"
                },
                {
                    "name": "RPC39",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III subunit F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLR3F",
                    "type": "recommended"
                },
                {
                    "name": "C34",
                    "type": "synonym"
                },
                {
                    "name": "IMD101",
                    "type": "synonym"
                },
                {
                    "name": "POLR3F",
                    "type": "synonym"
                },
                {
                    "name": "RPC39",
                    "type": "synonym"
                },
                {
                    "name": "RPC6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H1D9-1",
            "evidence": [
                {
                    "id": "619872",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619872"
                },
                {
                    "id": "0061071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32910-1",
            "uniprot_ac": "P32910",
            "uniprot_id": "RPC6_YEAST",
            "refseq_ac": "NP_014400",
            "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": "DNA-directed RNA polymerase III subunit RPC6",
                    "type": "recommended"
                },
                {
                    "name": "C34",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III 36 kDa polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit C34",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPC34",
                    "type": "recommended"
                },
                {
                    "name": "N2031",
                    "type": "synonym"
                },
                {
                    "name": "RPC34",
                    "type": "synonym"
                }
            ],
            "record_id": "P32910-1",
            "evidence": [
                {
                    "id": "0061071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQ56-1",
            "uniprot_ac": "D3ZQ56",
            "uniprot_id": "D3ZQ56_RAT",
            "refseq_ac": "NP_001101254",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC6",
                    "type": "recommended"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC6",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C6",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (RNA) III subunit F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3f",
                    "type": "recommended"
                },
                {
                    "name": "Polr3f",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQ56-1",
            "evidence": [
                {
                    "id": "0061071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VD25-1",
            "uniprot_ac": "Q9VD25",
            "uniprot_id": "RPC6_DROME",
            "refseq_ac": "NP_001247237",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-directed RNA polymerase III subunit RPC6",
                    "type": "recommended"
                },
                {
                    "name": "CG5380-PB",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed RNA polymerase III subunit F",
                    "type": "synonym"
                },
                {
                    "name": "Polr3F-PB",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit C6",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase III subunit F, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Polr3F",
                    "type": "recommended"
                },
                {
                    "name": "CG5380",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5380",
                    "type": "synonym"
                },
                {
                    "name": "Polr3F",
                    "type": "synonym"
                },
                {
                    "name": "RPC34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VD25-1",
            "evidence": [
                {
                    "id": "0061071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061071"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061071"
}