{
    "disease_id": "DOID:0090018",
    "recommended_name": {
        "id": "DOID:0090018",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090018",
        "name": "TNF receptorassociated periodic syndrome",
        "description": "An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0090018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090018",
            "name": "familial Hibernian fever",
            "description": ""
        },
        {
            "id": "DOID:0090018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090018",
            "name": "tumor necrosis factor receptor associated periodic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090018",
            "name": "FHF",
            "description": ""
        },
        {
            "id": "DOID:0090018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090018",
            "name": "FPF",
            "description": ""
        },
        {
            "id": "DOID:0090018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090018",
            "name": "TRAPS",
            "description": ""
        },
        {
            "id": "DOID:0090018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090018",
            "name": "autosomal dominant familial periodic fever",
            "description": ""
        },
        {
            "id": "DOID:0090018",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090018",
            "name": "hibernian fever",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "TNF receptor 1-associated periodic fever syndrome",
            "description": "A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis."
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "autosomal dominant familial periodic fever",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "FHF",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "Hibernian fever, familial",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "TNF receptor 1-associated periodic fever syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "TNF receptor 1-associated periodic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "TNF receptor-associated periodic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "TRAPS",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "TRAPS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "familial Hibernian fever",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "tumor necrosis factor receptor 1 associated periodic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "tumor necrosis factor receptor 1-associated periodic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "tumor necrosis factor receptor-associated periodic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "tumour necrosis factor receptor 1 associated periodic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "tumour necrosis factor receptor 1-associated periodic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "tumour necrosis factor receptor-associated periodic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "name": "FPF",
            "description": ""
        },
        {
            "id": "MIM:142680",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/142680",
            "name": "Periodic fever, familial, autosomal dominant",
            "description": "Periodic fever, familial, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090018"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090018",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090018",
            "categories": []
        },
        {
            "id": "MONDO:0007727",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007727",
            "categories": []
        },
        {
            "id": "MIM:142680",
            "database": "MIM",
            "url": "https://www.omim.org/entry/142680",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P25118-1",
            "uniprot_ac": "P25118",
            "uniprot_id": "TNR1A_MOUSE",
            "refseq_ac": "NP_035739",
            "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 1A",
                    "type": "recommended"
                },
                {
                    "name": "TNF receptor alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "TNF-R1",
                    "type": "synonym"
                },
                {
                    "name": "TNF-RI",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alpha-R1",
                    "type": "synonym"
                },
                {
                    "name": "TNFR-I",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                },
                {
                    "name": "p60",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor type I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf1a",
                    "type": "recommended"
                },
                {
                    "name": "CD120a",
                    "type": "synonym"
                },
                {
                    "name": "FPF",
                    "type": "synonym"
                },
                {
                    "name": "TNF-R-I",
                    "type": "synonym"
                },
                {
                    "name": "TNF-R1",
                    "type": "synonym"
                },
                {
                    "name": "TNF-R55",
                    "type": "synonym"
                },
                {
                    "name": "TNF-R",
                    "type": "synonym"
                },
                {
                    "name": "TNF-alphaR1",
                    "type": "synonym"
                },
                {
                    "name": "TNFAR",
                    "type": "synonym"
                },
                {
                    "name": "TNFR60",
                    "type": "synonym"
                },
                {
                    "name": "TNFRI",
                    "type": "synonym"
                },
                {
                    "name": "TNFRp55",
                    "type": "synonym"
                },
                {
                    "name": "TNFalpha-R1",
                    "type": "synonym"
                },
                {
                    "name": "Tnfr-1",
                    "type": "synonym"
                },
                {
                    "name": "Tnfr-2",
                    "type": "synonym"
                },
                {
                    "name": "Tnfr1",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf1a",
                    "type": "synonym"
                },
                {
                    "name": "p55-R",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                }
            ],
            "record_id": "P25118-1",
            "evidence": [
                {
                    "id": "0090018",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090018"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19438-1",
            "uniprot_ac": "P19438",
            "uniprot_id": "TNR1A_HUMAN",
            "refseq_ac": "NP_001056",
            "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 1A",
                    "type": "recommended"
                },
                {
                    "name": "TNF-R1",
                    "type": "synonym"
                },
                {
                    "name": "TNF-RI",
                    "type": "synonym"
                },
                {
                    "name": "TNFR-I",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                },
                {
                    "name": "p60",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 1A isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 1A",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor type 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor-alpha receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFRSF1A",
                    "type": "recommended"
                },
                {
                    "name": "CD120a",
                    "type": "synonym"
                },
                {
                    "name": "FPF",
                    "type": "synonym"
                },
                {
                    "name": "TBP1",
                    "type": "synonym"
                },
                {
                    "name": "TNF-R-I",
                    "type": "synonym"
                },
                {
                    "name": "TNF-R55",
                    "type": "synonym"
                },
                {
                    "name": "TNF-R",
                    "type": "synonym"
                },
                {
                    "name": "TNFAR",
                    "type": "synonym"
                },
                {
                    "name": "TNFR1",
                    "type": "synonym"
                },
                {
                    "name": "TNFR55",
                    "type": "synonym"
                },
                {
                    "name": "TNFR60",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF1A",
                    "type": "synonym"
                },
                {
                    "name": "p55-R",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                },
                {
                    "name": "p60",
                    "type": "synonym"
                }
            ],
            "record_id": "P19438-1",
            "evidence": [
                {
                    "id": "142680",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/142680"
                },
                {
                    "id": "0090018",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090018"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22934-1",
            "uniprot_ac": "P22934",
            "uniprot_id": "TNR1A_RAT",
            "refseq_ac": "NP_037223",
            "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 1A",
                    "type": "recommended"
                },
                {
                    "name": "TNF-R1",
                    "type": "synonym"
                },
                {
                    "name": "TNF-RI",
                    "type": "synonym"
                },
                {
                    "name": "TNFR-I",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor receptor type I",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                },
                {
                    "name": "p60",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 1a",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor type I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf1a",
                    "type": "recommended"
                },
                {
                    "name": "TNFR-1",
                    "type": "synonym"
                },
                {
                    "name": "Tnfr-1",
                    "type": "synonym"
                },
                {
                    "name": "Tnfr1",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf1a",
                    "type": "synonym"
                }
            ],
            "record_id": "P22934-1",
            "evidence": [
                {
                    "id": "0090018",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090018"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090018"
}
