{
    "disease_id": "DOID:0061078",
    "recommended_name": {
        "id": "DOID:0061078",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061078",
        "name": "immunodeficiency 109",
        "description": "A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0061078",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061078",
            "name": "Immunodeficiency-109 with EBV-induced lymphoproliferation",
            "description": ""
        },
        {
            "id": "MONDO:0859526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859526",
            "name": "immunodeficiency 109 with lymphoproliferation",
            "description": ""
        },
        {
            "id": "MIM:620282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620282",
            "name": "Immunodeficiency 109 with lymphoproliferation",
            "description": "Immunodeficiency 109 with lymphoproliferation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061078"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061078",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061078",
            "categories": []
        },
        {
            "id": "MONDO:0859526",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859526",
            "categories": []
        },
        {
            "id": "MIM:620282",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620282",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F8V4-1",
            "uniprot_ac": "E7F8V4",
            "uniprot_id": "E7F8V4_DANRE",
            "refseq_ac": "NP_001428837",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 9a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 9a isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnfrsf9a",
                    "type": "recommended"
                },
                {
                    "name": "tnfrsf9a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136557",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F8V4-1",
            "evidence": [
                {
                    "id": "0061078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IT02-1",
            "uniprot_ac": "A0A0R4IT02",
            "uniprot_id": "A0A0R4IT02_DANRE",
            "refseq_ac": "NP_001313387",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "41BB",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor superfamily member 9b precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 9b precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnfrsf9b",
                    "type": "recommended"
                },
                {
                    "name": "tnfrsf9b",
                    "type": "synonym"
                },
                {
                    "name": "tnfrsf9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IT02-1",
            "evidence": [
                {
                    "id": "0061078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20334-1",
            "uniprot_ac": "P20334",
            "uniprot_id": "TNR9_MOUSE",
            "refseq_ac": "NP_001070977",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "4-1BB ligand receptor",
                    "type": "synonym"
                },
                {
                    "name": "CD137 antigen",
                    "type": "synonym"
                },
                {
                    "name": "T-cell antigen 4-1BB",
                    "type": "synonym"
                },
                {
                    "name": "secreted CD137 antigen",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 9 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf9",
                    "type": "recommended"
                },
                {
                    "name": "4-1BB",
                    "type": "synonym"
                },
                {
                    "name": "A930040I11Rik",
                    "type": "synonym"
                },
                {
                    "name": "CDw137",
                    "type": "synonym"
                },
                {
                    "name": "Cd137",
                    "type": "synonym"
                },
                {
                    "name": "ILA",
                    "type": "synonym"
                },
                {
                    "name": "Ila",
                    "type": "synonym"
                },
                {
                    "name": "Ly63",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf9",
                    "type": "synonym"
                }
            ],
            "record_id": "P20334-1",
            "evidence": [
                {
                    "id": "0061078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07011-1",
            "uniprot_ac": "Q07011",
            "uniprot_id": "TNR9_HUMAN",
            "refseq_ac": "NP_001552",
            "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 9",
                    "type": "recommended"
                },
                {
                    "name": "4-1BB ligand receptor",
                    "type": "synonym"
                },
                {
                    "name": "CD137 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CDw137",
                    "type": "synonym"
                },
                {
                    "name": "T cell antigen ILA",
                    "type": "synonym"
                },
                {
                    "name": "T-cell antigen 4-1BB homolog",
                    "type": "synonym"
                },
                {
                    "name": "T-cell antigen ILA",
                    "type": "synonym"
                },
                {
                    "name": "homolog of mouse 4-1BB",
                    "type": "synonym"
                },
                {
                    "name": "induced by lymphocyte activation (ILA)",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-activated receptor, homolog of mouse Ly63",
                    "type": "synonym"
                },
                {
                    "name": "receptor protein 4-1BB",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFRSF9",
                    "type": "recommended"
                },
                {
                    "name": "4-1BB",
                    "type": "synonym"
                },
                {
                    "name": "CD137",
                    "type": "synonym"
                },
                {
                    "name": "CDw137",
                    "type": "synonym"
                },
                {
                    "name": "ILA",
                    "type": "synonym"
                },
                {
                    "name": "IMD109",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07011-1",
            "evidence": [
                {
                    "id": "620282",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620282"
                },
                {
                    "id": "0061078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061078"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V895-1",
            "uniprot_ac": "Q4V895",
            "uniprot_id": "Q4V895_RAT",
            "refseq_ac": "NP_001020944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TNF receptor superfamily member 9",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf9",
                    "type": "recommended"
                },
                {
                    "name": "4-1BB",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V895-1",
            "evidence": [
                {
                    "id": "0061078",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061078"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061078"
}