{
    "disease_id": "DOID:0061092",
    "recommended_name": {
        "id": "DOID:0061092",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061092",
        "name": "immunodeficiency 127",
        "description": "A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0975832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975832",
            "name": "immunodeficiency 127",
            "description": ""
        },
        {
            "id": "MIM:620977",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620977",
            "name": "Immunodeficiency 127",
            "description": "Immunodeficiency 127"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061092"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061092",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061092",
            "categories": []
        },
        {
            "id": "MONDO:0975832",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975832",
            "categories": []
        },
        {
            "id": "MIM:620977",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620977",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4W898-1",
            "uniprot_ac": "Q4W898",
            "uniprot_id": "Q4W898_DANRE",
            "refseq_ac": "NP_001019618",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lymphotoxin-alpha",
                    "type": "recommended"
                },
                {
                    "name": "TNF alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-beta",
                    "type": "synonym"
                },
                {
                    "name": "TNF2",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor ligand superfamily member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor",
                    "type": "synonym"
                },
                {
                    "name": "lta",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor (TNF superfamily, member 2)",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor alpha",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor b (TNF superfamily, member 2)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnfb",
                    "type": "recommended"
                },
                {
                    "name": "Tnf-alpha",
                    "type": "synonym"
                },
                {
                    "name": "tnfa-like",
                    "type": "synonym"
                },
                {
                    "name": "tnfb",
                    "type": "synonym"
                },
                {
                    "name": "tnf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4W898-1",
            "evidence": [
                {
                    "id": "0061092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06804-1",
            "uniprot_ac": "P06804",
            "uniprot_id": "TNFA_MOUSE",
            "refseq_ac": "NP_001265530",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "Cachectin",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "NTF",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-a",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor ligand superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "cachectin",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand 1f",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnf",
                    "type": "recommended"
                },
                {
                    "name": "DIF",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-a",
                    "type": "synonym"
                },
                {
                    "name": "TNFSF2",
                    "type": "synonym"
                },
                {
                    "name": "TNFalpha",
                    "type": "synonym"
                },
                {
                    "name": "Tnfa",
                    "type": "synonym"
                },
                {
                    "name": "Tnfsf1a",
                    "type": "synonym"
                },
                {
                    "name": "Tnfsf2",
                    "type": "synonym"
                },
                {
                    "name": "Tnf",
                    "type": "synonym"
                },
                {
                    "name": "Tnlg1f",
                    "type": "synonym"
                }
            ],
            "record_id": "P06804-1",
            "evidence": [
                {
                    "id": "0061092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01375-1",
            "uniprot_ac": "P01375",
            "uniprot_id": "TNFA_HUMAN",
            "refseq_ac": "NP_000585",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "APC1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Cachectin",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "NTF",
                    "type": "synonym"
                },
                {
                    "name": "TNF, macrophage-derived",
                    "type": "synonym"
                },
                {
                    "name": "TNF, monocyte-derived",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-a",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor ligand superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand 1F",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor-alpha",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrotic factor alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNF",
                    "type": "recommended"
                },
                {
                    "name": "DIF",
                    "type": "synonym"
                },
                {
                    "name": "IMD127",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNFA",
                    "type": "synonym"
                },
                {
                    "name": "TNFSF2",
                    "type": "synonym"
                },
                {
                    "name": "TNF",
                    "type": "synonym"
                },
                {
                    "name": "TNLG1F",
                    "type": "synonym"
                }
            ],
            "record_id": "P01375-1",
            "evidence": [
                {
                    "id": "620977",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620977"
                },
                {
                    "id": "0061092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061092"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16599-1",
            "uniprot_ac": "P16599",
            "uniprot_id": "TNFA_RAT",
            "refseq_ac": "NP_036807",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "Cachectin",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "NTF",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "TNF-a",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor ligand superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "cachectin",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor (TNF superfamily, member 2)",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand superfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnf",
                    "type": "recommended"
                },
                {
                    "name": "RATTNF",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Tnfa",
                    "type": "synonym"
                },
                {
                    "name": "Tnfsf2",
                    "type": "synonym"
                },
                {
                    "name": "Tnf",
                    "type": "synonym"
                }
            ],
            "record_id": "P16599-1",
            "evidence": [
                {
                    "id": "0061092",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061092"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061092"
}