{
    "disease_id": "DOID:0111935",
    "recommended_name": {
        "id": "DOID:0111935",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111935",
        "name": "immunodeficiency 16",
        "description": "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111935",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111935",
            "name": "combined immunodeficiency with impaired immunity to HHV-8",
            "description": ""
        },
        {
            "id": "DOID:0111935",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111935",
            "name": "combined immunodeficiency with impaired immunity to human herpes virus 8",
            "description": ""
        },
        {
            "id": "DOID:0111935",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111935",
            "name": "IMD16",
            "description": ""
        },
        {
            "id": "DOID:0111935",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111935",
            "name": "OX40 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111935",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111935",
            "name": "combined immunodeficiency with childhood-onset Kaposi sarcoma",
            "description": ""
        },
        {
            "id": "DOID:0111935",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111935",
            "name": "combined immunodeficiency due to OX40 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014268",
            "name": "combined immunodeficiency due to OX40 deficiency",
            "description": "Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma."
        },
        {
            "id": "MONDO:0014268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014268",
            "name": "combined immunodeficiency with childhood-onset Kaposi sarcoma",
            "description": ""
        },
        {
            "id": "MONDO:0014268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014268",
            "name": "combined immunodeficiency with impaired immunity to HHV-8",
            "description": ""
        },
        {
            "id": "MONDO:0014268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014268",
            "name": "combined immunodeficiency with impaired immunity to human herpes virus 8",
            "description": ""
        },
        {
            "id": "MONDO:0014268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014268",
            "name": "immunodeficiency type 16",
            "description": ""
        },
        {
            "id": "MONDO:0014268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014268",
            "name": "IMD16",
            "description": ""
        },
        {
            "id": "MONDO:0014268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014268",
            "name": "immunodeficiency 16",
            "description": ""
        },
        {
            "id": "MIM:615593",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615593",
            "name": "Immunodeficiency 16",
            "description": "Immunodeficiency 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111935"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111935",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111935",
            "categories": []
        },
        {
            "id": "MONDO:0014268",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014268",
            "categories": []
        },
        {
            "id": "MIM:615593",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615593",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P47741-1",
            "uniprot_ac": "P47741",
            "uniprot_id": "TNR4_MOUSE",
            "refseq_ac": "NP_035789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 4",
                    "type": "recommended"
                },
                {
                    "name": "OX40 antigen",
                    "type": "synonym"
                },
                {
                    "name": "OX40L receptor",
                    "type": "synonym"
                },
                {
                    "name": "tax-transcriptionally activated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf4",
                    "type": "recommended"
                },
                {
                    "name": "ACT35",
                    "type": "synonym"
                },
                {
                    "name": "CD134",
                    "type": "synonym"
                },
                {
                    "name": "Ly-70",
                    "type": "synonym"
                },
                {
                    "name": "Ox40",
                    "type": "synonym"
                },
                {
                    "name": "TXGP1L",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf4",
                    "type": "synonym"
                },
                {
                    "name": "Txgp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P47741-1",
            "evidence": [
                {
                    "id": "0111935",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111935"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43489-1",
            "uniprot_ac": "P43489",
            "uniprot_id": "TNR4_HUMAN",
            "refseq_ac": "NP_003318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 4",
                    "type": "recommended"
                },
                {
                    "name": "ACT35 antigen",
                    "type": "synonym"
                },
                {
                    "name": "ATC35 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CD134 antigen",
                    "type": "synonym"
                },
                {
                    "name": "OX40 antigen",
                    "type": "synonym"
                },
                {
                    "name": "OX40 cell surface antigen",
                    "type": "synonym"
                },
                {
                    "name": "OX40 homologue",
                    "type": "synonym"
                },
                {
                    "name": "OX40L receptor",
                    "type": "synonym"
                },
                {
                    "name": "TAX transcriptionally-activated glycoprotein 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "lymphoid activation antigene ACT35",
                    "type": "synonym"
                },
                {
                    "name": "tax-transcriptionally activated glycoprotein 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFRSF4",
                    "type": "recommended"
                },
                {
                    "name": "ACT35",
                    "type": "synonym"
                },
                {
                    "name": "CD134",
                    "type": "synonym"
                },
                {
                    "name": "IMD16",
                    "type": "synonym"
                },
                {
                    "name": "OX40",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF4",
                    "type": "synonym"
                },
                {
                    "name": "TXGP1L",
                    "type": "synonym"
                }
            ],
            "record_id": "P43489-1",
            "evidence": [
                {
                    "id": "615593",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615593"
                },
                {
                    "id": "0111935",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111935"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15725-1",
            "uniprot_ac": "P15725",
            "uniprot_id": "TNR4_RAT",
            "refseq_ac": "NP_037181",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 4",
                    "type": "recommended"
                },
                {
                    "name": "MRC OX40",
                    "type": "synonym"
                },
                {
                    "name": "OX40 antigen",
                    "type": "synonym"
                },
                {
                    "name": "OX40L receptor",
                    "type": "synonym"
                },
                {
                    "name": "Tax-transcriptionally activated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor (ligand) superfamily member 4",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 4",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor superfamily, member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf4",
                    "type": "recommended"
                },
                {
                    "name": "Ox40",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf4",
                    "type": "synonym"
                },
                {
                    "name": "Txgp1l",
                    "type": "synonym"
                },
                {
                    "name": "Txgp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15725-1",
            "evidence": [
                {
                    "id": "0111935",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111935"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111935"
}