{
    "disease_id": "DOID:0112063",
    "recommended_name": {
        "id": "DOID:0112063",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112063",
        "name": "X-Linked immunodeficiency 74",
        "description": "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112063",
            "name": "IMD74",
            "description": ""
        },
        {
            "id": "DOID:0112063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112063",
            "name": "respiratory insufficiency due to SARS-CoV-2 viral infection",
            "description": ""
        },
        {
            "id": "DOID:0112063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112063",
            "name": "TLR7 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112063",
            "name": "X-linked immunodeficiency 74,COVID-19-related",
            "description": ""
        },
        {
            "id": "MONDO:0026767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026767",
            "name": "immunodeficiency 74, COVID-19-related, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0026767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026767",
            "name": "immunodeficiency 74, COVID19-related, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0026767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026767",
            "name": "IMD74",
            "description": ""
        },
        {
            "id": "MIM:301051",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301051",
            "name": "Immunodeficiency 74, COVID19-related, X-linked",
            "description": "Immunodeficiency 74, COVID19-related, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112063"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112063",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112063",
            "categories": []
        },
        {
            "id": "MONDO:0026767",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026767",
            "categories": []
        },
        {
            "id": "MIM:301051",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301051",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P58681-1",
            "uniprot_ac": "P58681",
            "uniprot_id": "TLR7_MOUSE",
            "refseq_ac": "NP_001277684",
            "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 7",
                    "type": "recommended"
                },
                {
                    "name": "Toll like receptor 7",
                    "type": "synonym"
                },
                {
                    "name": "toll-like receptor 7 isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tlr7",
                    "type": "recommended"
                },
                {
                    "name": "Tlr7",
                    "type": "synonym"
                }
            ],
            "record_id": "P58681-1",
            "evidence": [
                {
                    "id": "0112063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NYK1-1",
            "uniprot_ac": "Q9NYK1",
            "uniprot_id": "TLR7_HUMAN",
            "refseq_ac": "NP_057646",
            "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 7",
                    "type": "recommended"
                },
                {
                    "name": "toll-like receptor 7 precursor",
                    "type": "synonym"
                },
                {
                    "name": "toll-like receptor 7-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TLR7",
                    "type": "recommended"
                },
                {
                    "name": "IMD74",
                    "type": "synonym"
                },
                {
                    "name": "PRO285",
                    "type": "synonym"
                },
                {
                    "name": "SLEB17",
                    "type": "synonym"
                },
                {
                    "name": "TLR7-like",
                    "type": "synonym"
                },
                {
                    "name": "TLR7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYK1-1",
            "evidence": [
                {
                    "id": "301051",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301051"
                },
                {
                    "id": "0112063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GHR4-1",
            "uniprot_ac": "A0A8I6GHR4",
            "uniprot_id": "A0A8I6GHR4_RAT",
            "refseq_ac": "XP_017457568",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Toll-like receptor 7",
                    "type": "synonym"
                },
                {
                    "name": "toll-like receptor 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tlr7",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563357",
                    "type": "synonym"
                },
                {
                    "name": "Tlr7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GHR4-1",
            "evidence": [
                {
                    "id": "0112063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112063"
                }
            ]
        },
        {
            "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": "0112063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112063"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112063"
}