{
    "disease_id": "DOID:0061097",
    "recommended_name": {
        "id": "DOID:0061097",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061097",
        "name": "immunodeficiency 132B",
        "description": "A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0976228",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976228",
            "name": "immunodeficiency 132b",
            "description": ""
        },
        {
            "id": "MIM:621096",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621096",
            "name": "Immunodeficiency 132B",
            "description": "Immunodeficiency 132B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061097"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061097",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061097",
            "categories": []
        },
        {
            "id": "MONDO:0976228",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976228",
            "categories": []
        },
        {
            "id": "MIM:621096",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621096",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60803-1",
            "uniprot_ac": "Q60803",
            "uniprot_id": "TRAF3_MOUSE",
            "refseq_ac": "NP_035762",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TNF receptor-associated factor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CD40 receptor-associated factor 1",
                    "type": "synonym"
                },
                {
                    "name": "CD40-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CD40BP",
                    "type": "synonym"
                },
                {
                    "name": "CRAF1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRAF3",
                    "type": "synonym"
                },
                {
                    "name": "TNF receptor-associated factor 3 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Traf3",
                    "type": "recommended"
                },
                {
                    "name": "CAP-1",
                    "type": "synonym"
                },
                {
                    "name": "CD40bp",
                    "type": "synonym"
                },
                {
                    "name": "CRAF1",
                    "type": "synonym"
                },
                {
                    "name": "Cap-1",
                    "type": "synonym"
                },
                {
                    "name": "Craf1",
                    "type": "synonym"
                },
                {
                    "name": "LAP1",
                    "type": "synonym"
                },
                {
                    "name": "T-BAM",
                    "type": "synonym"
                },
                {
                    "name": "TRAFAMN",
                    "type": "synonym"
                },
                {
                    "name": "Traf3",
                    "type": "synonym"
                },
                {
                    "name": "Trafamn",
                    "type": "synonym"
                },
                {
                    "name": "amn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60803-1",
            "evidence": [
                {
                    "id": "0061097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13114-1",
            "uniprot_ac": "Q13114",
            "uniprot_id": "TRAF3_HUMAN",
            "refseq_ac": "NP_001186356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TNF receptor-associated factor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CD40 associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CD40 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CD40 receptor associated factor 1",
                    "type": "synonym"
                },
                {
                    "name": "CD40 receptor-associated factor 1",
                    "type": "synonym"
                },
                {
                    "name": "CD40-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CD40BP",
                    "type": "synonym"
                },
                {
                    "name": "CRAF1",
                    "type": "synonym"
                },
                {
                    "name": "LAP1",
                    "type": "synonym"
                },
                {
                    "name": "LMP1-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRAF3",
                    "type": "synonym"
                },
                {
                    "name": "TNF receptor-associated factor 3 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAF3",
                    "type": "recommended"
                },
                {
                    "name": "CAP-1",
                    "type": "synonym"
                },
                {
                    "name": "CD40bp",
                    "type": "synonym"
                },
                {
                    "name": "CRAF1",
                    "type": "synonym"
                },
                {
                    "name": "IIAE5",
                    "type": "synonym"
                },
                {
                    "name": "IMD132A",
                    "type": "synonym"
                },
                {
                    "name": "IMD132B",
                    "type": "synonym"
                },
                {
                    "name": "LAP1",
                    "type": "synonym"
                },
                {
                    "name": "RNF118",
                    "type": "synonym"
                },
                {
                    "name": "TRAF3",
                    "type": "synonym"
                },
                {
                    "name": "TRAFAMN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13114-1",
            "evidence": [
                {
                    "id": "621096",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621096"
                },
                {
                    "id": "0061097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K7X2-1",
            "uniprot_ac": "A0A0G2K7X2",
            "uniprot_id": "A0A0G2K7X2_RAT",
            "refseq_ac": "XP_038968511",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TNF receptor-associated factor",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "TNF receptor-associated factor 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Traf3",
                    "type": "recommended"
                },
                {
                    "name": "Traf3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K7X2-1",
            "evidence": [
                {
                    "id": "0061097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061097"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IR14-1",
            "uniprot_ac": "Q8IR14",
            "uniprot_id": "Q8IR14_DROME",
            "refseq_ac": "NP_727976",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4394-PA",
                    "type": "synonym"
                },
                {
                    "name": "TNF-receptor-associated factor-like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Traf-like-PA",
                    "type": "synonym"
                },
                {
                    "name": "Traf3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Traf-like",
                    "type": "recommended"
                },
                {
                    "name": "CG4394",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4394",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4394",
                    "type": "synonym"
                },
                {
                    "name": "TRAF3",
                    "type": "synonym"
                },
                {
                    "name": "Traf-like",
                    "type": "synonym"
                },
                {
                    "name": "Traf-related",
                    "type": "synonym"
                },
                {
                    "name": "Traf3",
                    "type": "synonym"
                },
                {
                    "name": "dTRAF3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IR14-1",
            "evidence": [
                {
                    "id": "0061097",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061097"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061097"
}