{
    "disease_id": "DOID:0061225",
    "recommended_name": {
        "id": "DOID:0061225",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061225",
        "name": "interleukin-1 receptor antagonist deficiency",
        "description": "An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14."
    },
    "synonyms": [
        {
            "id": "DOID:0061225",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061225",
            "name": "Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency",
            "description": ""
        },
        {
            "id": "DOID:0061225",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061225",
            "name": "chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis",
            "description": ""
        },
        {
            "id": "DOID:0061225",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061225",
            "name": "Sterile multifocal osteomyelitis with periostitis and pustulosis",
            "description": ""
        },
        {
            "id": "MONDO:0013021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "name": "sterile multifocal osteomyelitis with periostitis and pustulosis",
            "description": "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis."
        },
        {
            "id": "MONDO:0013021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "name": "DIRA",
            "description": ""
        },
        {
            "id": "MONDO:0013021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "name": "Interleukin-1 receptor antagonist deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "name": "OMPP",
            "description": ""
        },
        {
            "id": "MONDO:0013021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "name": "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "name": "deficiency of the Interleukin-1 receptor antagonist",
            "description": ""
        },
        {
            "id": "MONDO:0013021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "name": "deficiency of interleukin-1 receptor antagonist",
            "description": ""
        },
        {
            "id": "MONDO:0013021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "name": "osteomyelitis, STERILE multifocal, with periostitis and pustulosis",
            "description": ""
        },
        {
            "id": "MIM:612852",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612852",
            "name": "Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis",
            "description": "Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061225"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061225",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061225",
            "categories": []
        },
        {
            "id": "MONDO:0013021",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013021",
            "categories": []
        },
        {
            "id": "MIM:612852",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612852",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P25085-1",
            "uniprot_ac": "P25085",
            "uniprot_id": "IL1RA_MOUSE",
            "refseq_ac": "NP_001034790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 receptor antagonist protein",
                    "type": "recommended"
                },
                {
                    "name": "IL-1RN",
                    "type": "synonym"
                },
                {
                    "name": "IL-1ra",
                    "type": "synonym"
                },
                {
                    "name": "IL1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "IRAP",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor antagonist protein isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor antagonist protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il1rn",
                    "type": "recommended"
                },
                {
                    "name": "F630041P17Rik",
                    "type": "synonym"
                },
                {
                    "name": "IL-1ra",
                    "type": "synonym"
                },
                {
                    "name": "Il-1ra",
                    "type": "synonym"
                },
                {
                    "name": "Il1rn",
                    "type": "synonym"
                }
            ],
            "record_id": "P25085-1",
            "evidence": [
                {
                    "id": "0061225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18510-1",
            "uniprot_ac": "P18510",
            "uniprot_id": "IL1RA_HUMAN",
            "refseq_ac": "NP_000568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 receptor antagonist protein",
                    "type": "recommended"
                },
                {
                    "name": "ICIL-1RA",
                    "type": "synonym"
                },
                {
                    "name": "IL-1RN",
                    "type": "synonym"
                },
                {
                    "name": "IL-1ra",
                    "type": "synonym"
                },
                {
                    "name": "IL1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "IRAP",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor antagonist protein isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor antagonist protein",
                    "type": "synonym"
                },
                {
                    "name": "intracellular IL-1 receptor antagonist type II",
                    "type": "synonym"
                },
                {
                    "name": "intracellular interleukin-1 receptor antagonist (icIL-1ra)",
                    "type": "synonym"
                },
                {
                    "name": "type II interleukin-1 receptor antagonist",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL1RN",
                    "type": "recommended"
                },
                {
                    "name": "CRMO2",
                    "type": "synonym"
                },
                {
                    "name": "DIRA",
                    "type": "synonym"
                },
                {
                    "name": "ICIL-1RA",
                    "type": "synonym"
                },
                {
                    "name": "IL-1RN",
                    "type": "synonym"
                },
                {
                    "name": "IL-1ra3",
                    "type": "synonym"
                },
                {
                    "name": "IL-1ra",
                    "type": "synonym"
                },
                {
                    "name": "IL1F3",
                    "type": "synonym"
                },
                {
                    "name": "IL1RA",
                    "type": "synonym"
                },
                {
                    "name": "IL1RN",
                    "type": "synonym"
                },
                {
                    "name": "IRAP",
                    "type": "synonym"
                },
                {
                    "name": "MVCD4",
                    "type": "synonym"
                }
            ],
            "record_id": "P18510-1",
            "evidence": [
                {
                    "id": "612852",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612852"
                },
                {
                    "id": "0061225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061225"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25086-1",
            "uniprot_ac": "P25086",
            "uniprot_id": "IL1RA_RAT",
            "refseq_ac": "NP_071530",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1 receptor antagonist protein",
                    "type": "recommended"
                },
                {
                    "name": "IL-1RN",
                    "type": "synonym"
                },
                {
                    "name": "IL-1ra",
                    "type": "synonym"
                },
                {
                    "name": "IL1 inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "IRAP",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor antagonist protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor antagonist protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il1rn",
                    "type": "recommended"
                },
                {
                    "name": "IL-1ra",
                    "type": "synonym"
                },
                {
                    "name": "Il-1ra",
                    "type": "synonym"
                },
                {
                    "name": "Il1ra",
                    "type": "synonym"
                },
                {
                    "name": "Il1rn",
                    "type": "synonym"
                }
            ],
            "record_id": "P25086-1",
            "evidence": [
                {
                    "id": "0061225",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061225"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061225"
}