{
    "disease_id": "DOID:0061061",
    "recommended_name": {
        "id": "DOID:0061061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061061",
        "name": "immunodeficiency 91",
        "description": "A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0061061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061061",
            "name": "immunodeficiency 91 and hyperinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0030491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030491",
            "name": "immunodeficiency 91 and hyperinflammation",
            "description": "An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease."
        },
        {
            "id": "MONDO:0030491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030491",
            "name": "IMD91",
            "description": ""
        },
        {
            "id": "MONDO:0030491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030491",
            "name": "immunodeficiency, autosomal recessive, due to ZNFX1 deficiency:",
            "description": ""
        },
        {
            "id": "MIM:619644",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619644",
            "name": "Immunodeficiency 91 and hyperinflammation",
            "description": "Immunodeficiency 91 and hyperinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061061"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061061",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061061",
            "categories": []
        },
        {
            "id": "MONDO:0030491",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030491",
            "categories": []
        },
        {
            "id": "MIM:619644",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619644",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PND3-1",
            "uniprot_ac": "A0A8M9PND3",
            "uniprot_id": "A0A8M9PND3_DANRE",
            "refseq_ac": "XP_021333001",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFX1-type zinc finger-containing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "znfx1",
                    "type": "recommended"
                },
                {
                    "name": "znfx1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PND3-1",
            "evidence": [
                {
                    "id": "0061061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R151-1",
            "uniprot_ac": "Q8R151",
            "uniprot_id": "ZNFX1_MOUSE",
            "refseq_ac": "NP_001028368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFX1-type zinc finger-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP- dependent RNA translocase ZNFX1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein and -ssRNA ligase ZNFX1",
                    "type": "synonym"
                },
                {
                    "name": "NFX1-type zinc finger-containing protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "NFX1-type zinc finger-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Znfx1",
                    "type": "recommended"
                },
                {
                    "name": "Astx3",
                    "type": "synonym"
                },
                {
                    "name": "Znfx1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R151-1",
            "evidence": [
                {
                    "id": "0061061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2E3-1",
            "uniprot_ac": "Q9P2E3",
            "uniprot_id": "ZNFX1_HUMAN",
            "refseq_ac": "NP_066363",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFX1-type zinc finger-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP- dependent RNA translocase ZNFX1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein and -ssRNA ligase ZNFX1",
                    "type": "synonym"
                },
                {
                    "name": "NFX1-type zinc finger-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZNFX1",
                    "type": "recommended"
                },
                {
                    "name": "IMD91",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1404",
                    "type": "synonym"
                },
                {
                    "name": "ZNFX1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2E3-1",
            "evidence": [
                {
                    "id": "619644",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619644"
                },
                {
                    "id": "0061061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LMA9-1",
            "uniprot_ac": "F1LMA9",
            "uniprot_id": "F1LMA9_RAT",
            "refseq_ac": "NP_001376200",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFX1-type zinc finger-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "NFX1-type zinc finger-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Znfx1",
                    "type": "recommended"
                },
                {
                    "name": "Ab1-133",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306344",
                    "type": "synonym"
                },
                {
                    "name": "Znfx1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LMA9-1",
            "evidence": [
                {
                    "id": "0061061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCB7-1",
            "uniprot_ac": "Q9VCB7",
            "uniprot_id": "Q9VCB7_DROME",
            "refseq_ac": "NP_651229",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NFX1-type zinc finger-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG6204-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GH20028p",
                    "type": "recommended"
                },
                {
                    "name": "CG6204",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6204",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6204",
                    "type": "synonym"
                },
                {
                    "name": "GH20028p",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCB7-1",
            "evidence": [
                {
                    "id": "0061061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061061"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061061"
}