{
    "disease_id": "DOID:0061068",
    "recommended_name": {
        "id": "DOID:0061068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061068",
        "name": "immunodeficiency 98",
        "description": "A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0061068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061068",
            "name": "X-linked immunodeficiency 98 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "immunodeficiency 98 with autoinflammation, X-linked",
            "description": "An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia."
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "IMD98",
            "description": ""
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "X-linked immunodeficiency with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "immunodeficiency 98 with autoinflammation, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0024777",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "name": "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8",
            "description": ""
        },
        {
            "id": "MIM:301078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301078",
            "name": "Immunodeficiency 98 with autoinflammation, X-linked",
            "description": "Immunodeficiency 98 with autoinflammation, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061068"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061068",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061068",
            "categories": []
        },
        {
            "id": "MONDO:0024777",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024777",
            "categories": []
        },
        {
            "id": "MIM:301078",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301078",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q9M5-1",
            "uniprot_ac": "A0A2R8Q9M5",
            "uniprot_id": "A0A2R8Q9M5_DANRE",
            "refseq_ac": "NP_001373638",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Toll-like receptor 8b precursor",
                    "type": "synonym"
                },
                {
                    "name": "toll-like receptor 8b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tlr8b",
                    "type": "recommended"
                },
                {
                    "name": "TIR8.1",
                    "type": "synonym"
                },
                {
                    "name": "tlr8b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q9M5-1",
            "evidence": [
                {
                    "id": "0061068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58682-1",
            "uniprot_ac": "P58682",
            "uniprot_id": "TLR8_MOUSE",
            "refseq_ac": "NP_001300689",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Toll-like receptor 8",
                    "type": "recommended"
                },
                {
                    "name": "toll-like receptor 8 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tlr8",
                    "type": "recommended"
                },
                {
                    "name": "Tlr8",
                    "type": "synonym"
                }
            ],
            "record_id": "P58682-1",
            "evidence": [
                {
                    "id": "0061068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR97-1",
            "uniprot_ac": "Q9NR97",
            "uniprot_id": "TLR8_HUMAN",
            "refseq_ac": "NP_057694",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Toll-like receptor 8",
                    "type": "recommended"
                },
                {
                    "name": "toll-like receptor 8 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TLR8",
                    "type": "recommended"
                },
                {
                    "name": "CD288",
                    "type": "synonym"
                },
                {
                    "name": "IMD98",
                    "type": "synonym"
                },
                {
                    "name": "PRO286",
                    "type": "synonym"
                },
                {
                    "name": "TLR-8",
                    "type": "synonym"
                },
                {
                    "name": "TLR8",
                    "type": "synonym"
                },
                {
                    "name": "hTLR8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR97-1",
            "evidence": [
                {
                    "id": "301078",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301078"
                },
                {
                    "id": "0061068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061068"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9N6-1",
            "uniprot_ac": "A1Z9N6",
            "uniprot_id": "A1Z9N6_DROME",
            "refseq_ac": "NP_001286416",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acid-labile subunit",
                    "type": "synonym"
                },
                {
                    "name": "CG8561-PB",
                    "type": "synonym"
                },
                {
                    "name": "Convoluted, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Convoluted, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "acid labile substrate",
                    "type": "synonym"
                },
                {
                    "name": "acid labile subunit",
                    "type": "synonym"
                },
                {
                    "name": "conv-PB",
                    "type": "synonym"
                },
                {
                    "name": "convoluted, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "conv",
                    "type": "recommended"
                },
                {
                    "name": "ALS",
                    "type": "synonym"
                },
                {
                    "name": "Als",
                    "type": "synonym"
                },
                {
                    "name": "CG8561",
                    "type": "synonym"
                },
                {
                    "name": "CT24963",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8561",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8561",
                    "type": "synonym"
                },
                {
                    "name": "capricious-like",
                    "type": "synonym"
                },
                {
                    "name": "conv",
                    "type": "synonym"
                },
                {
                    "name": "dALS",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k06507b",
                    "type": "synonym"
                },
                {
                    "name": "tartan/capricious-like",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9N6-1",
            "evidence": [
                {
                    "id": "0061068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061068"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061068"
}