{
    "disease_id": "DOID:0111989",
    "recommended_name": {
        "id": "DOID:0111989",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111989",
        "name": "immunodeficiency 35",
        "description": "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111989",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111989",
            "name": "IMD35",
            "description": ""
        },
        {
            "id": "DOID:0111989",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111989",
            "name": "TYK2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111989",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111989",
            "name": "susceptibility to infection due to TYK2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111989",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111989",
            "name": "tyrosine kinase 2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111989",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111989",
            "name": "autosomal recessiv HIES with atypical mycobacteriosis",
            "description": ""
        },
        {
            "id": "DOID:0111989",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111989",
            "name": "autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "immunodeficiency 35",
            "description": "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene."
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "HIES with atypical Mycobacteriosis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "IMD35",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "TYK2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "immunodeficiency 35",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "immunodeficiency type 35",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "susceptibility to infection due to TYK2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012682",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "name": "tyrosine kinase 2 deficiency",
            "description": ""
        },
        {
            "id": "MIM:611521",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611521",
            "name": "Immunodeficiency 35",
            "description": "Immunodeficiency 35"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111989"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111989",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111989",
            "categories": []
        },
        {
            "id": "MONDO:0012682",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012682",
            "categories": []
        },
        {
            "id": "MIM:611521",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611521",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R117-1",
            "uniprot_ac": "Q9R117",
            "uniprot_id": "TYK2_MOUSE",
            "refseq_ac": "NP_061263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-receptor tyrosine-protein kinase TYK2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "non-receptor tyrosine-protein kinase TYK2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "non-receptor tyrosine-protein kinase TYK2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase TYK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyk2",
                    "type": "recommended"
                },
                {
                    "name": "JTK1",
                    "type": "synonym"
                },
                {
                    "name": "Tyk2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R117-1",
            "evidence": [
                {
                    "id": "0111989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29597-1",
            "uniprot_ac": "P29597",
            "uniprot_id": "TYK2_HUMAN",
            "refseq_ac": "NP_003322",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Non-receptor tyrosine-protein kinase TYK2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "non-receptor tyrosine-protein kinase TYK2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "non-receptor tyrosine-protein kinase TYK2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TYK2",
                    "type": "recommended"
                },
                {
                    "name": "IMD35",
                    "type": "synonym"
                },
                {
                    "name": "JTK1",
                    "type": "synonym"
                },
                {
                    "name": "TYK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P29597-1",
            "evidence": [
                {
                    "id": "611521",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611521"
                },
                {
                    "id": "0111989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LYP8-1",
            "uniprot_ac": "A0ABK0LYP8",
            "uniprot_id": "A0ABK0LYP8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tyk2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LYP8-1",
            "evidence": [
                {
                    "id": "0111989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24592-1",
            "uniprot_ac": "Q24592",
            "uniprot_id": "JAK_DROME",
            "refseq_ac": "NP_511119",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase hopscotch",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "CG1594-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hop",
                    "type": "synonym"
                },
                {
                    "name": "JAK kinase",
                    "type": "synonym"
                },
                {
                    "name": "Janus-family kinase",
                    "type": "synonym"
                },
                {
                    "name": "hop-PA",
                    "type": "synonym"
                },
                {
                    "name": "hopscotch",
                    "type": "synonym"
                },
                {
                    "name": "hopskotch",
                    "type": "synonym"
                },
                {
                    "name": "janus kinase",
                    "type": "synonym"
                },
                {
                    "name": "locus 18",
                    "type": "synonym"
                },
                {
                    "name": "tumorous",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hop",
                    "type": "recommended"
                },
                {
                    "name": "4",
                    "type": "synonym"
                },
                {
                    "name": "CG1594",
                    "type": "synonym"
                },
                {
                    "name": "Dm JAK",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-160",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1594",
                    "type": "synonym"
                },
                {
                    "name": "HD-160",
                    "type": "synonym"
                },
                {
                    "name": "HOP",
                    "type": "synonym"
                },
                {
                    "name": "Hop1",
                    "type": "synonym"
                },
                {
                    "name": "Hop2",
                    "type": "synonym"
                },
                {
                    "name": "Hop",
                    "type": "synonym"
                },
                {
                    "name": "Hpo",
                    "type": "synonym"
                },
                {
                    "name": "JAK",
                    "type": "synonym"
                },
                {
                    "name": "Jak",
                    "type": "synonym"
                },
                {
                    "name": "L4",
                    "type": "synonym"
                },
                {
                    "name": "Tum-1",
                    "type": "synonym"
                },
                {
                    "name": "Tum",
                    "type": "synonym"
                },
                {
                    "name": "d-jak",
                    "type": "synonym"
                },
                {
                    "name": "hop/JAK",
                    "type": "synonym"
                },
                {
                    "name": "hop",
                    "type": "synonym"
                },
                {
                    "name": "jak",
                    "type": "synonym"
                },
                {
                    "name": "l(1)10Be",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G18",
                    "type": "synonym"
                },
                {
                    "name": "l(1)L4",
                    "type": "synonym"
                },
                {
                    "name": "l(1)hop",
                    "type": "synonym"
                },
                {
                    "name": "msvl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24592-1",
            "evidence": [
                {
                    "id": "0111989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111989"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111989"
}