{
    "disease_id": "DOID:0061101",
    "recommended_name": {
        "id": "DOID:0061101",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061101",
        "name": "immunodeficiency 132A",
        "description": "A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0061101",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061101",
            "name": "IMD132A",
            "description": ""
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "herpes simplex encephalitis, susceptibility to, 3",
            "description": "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene."
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "Herpes simplex encephalitis, susceptibility to, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "TRAF3 herpes simplex encephalitis",
            "description": ""
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "herpes simplex encephalitis caused by mutation in TRAF3",
            "description": ""
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "herpes simplex encephalitis, susceptibility to, 3",
            "description": ""
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "IIAE5",
            "description": ""
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5",
            "description": ""
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5",
            "description": ""
        },
        {
            "id": "MONDO:0013920",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "name": "encephalopathy, acute, infection-induced, susceptibility to, 5",
            "description": ""
        },
        {
            "id": "MIM:614849",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614849",
            "name": "Encephalopathy, acute, infection-induced, 5, herpes-specific",
            "description": "Encephalopathy, acute, infection-induced, 5, herpes-specific"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061101"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061101",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061101",
            "categories": []
        },
        {
            "id": "MONDO:0013920",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013920",
            "categories": []
        },
        {
            "id": "MIM:614849",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614849",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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; Traf-like-PA; Traf3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RE66324p",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TNF-receptor-associated factor-like, isoform A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TNF-receptor-associated factor-like, isoform A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Traf-like",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG4394; Dmel\\CG4394; dTRAF3; Traf-related; Traf3; TRAF3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG4394",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4394",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4394",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRAF3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Traf-like-RA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Traf-like",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Traf-related",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Traf3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dTRAF3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061101",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061101"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CD40 receptor-associated factor 1; RING-type E3 ubiquitin transferase TRAF3; CD40-binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CD40 receptor-associated factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CD40-binding protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CD40BP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CRAF1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRAF3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TNF receptor-associated factor 3 isoform a",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Traf3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cap-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Craf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Traf3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Trafamn",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "amn; CAP-1; CD40bp; CRAF1; LAP1; T-BAM; TRAFAMN",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061101",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061101"
                }
            ]
        },
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CD40 binding protein; CD40 receptor associated factor 1; CD40 associated protein 1; RING-type E3 ubiquitin transferase TRAF3; LMP1-associated protein 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CD40 receptor-associated factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CD40-binding protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CD40BP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CRAF1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LAP1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LMP1-associated protein 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRAF3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TNF receptor-associated factor 3 isoform 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAF3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CAP-1; CAP1; CD40bp; CRAF1; IIAE5; IMD132A; IMD132B; LAP1; RNF118",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CAP-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CRAF1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TRAF3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TRAFAMN",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061101",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061101"
                },
                {
                    "id": "614849",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614849"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DEG0-1",
            "uniprot_ac": "Q6DEG0",
            "uniprot_id": "Q6DEG0_DANRE",
            "refseq_ac": "NP_001003513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TNF receptor-associated factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TNF receptor-associated factor 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "traf3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "traf3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92367",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92367",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0061101",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ARU4-1",
            "uniprot_ac": "A0A8I6ARU4",
            "uniprot_id": "A0A8I6ARU4_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": "TNF receptor-associated factor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Traf3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0061101",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061101"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061101"
}