{
    "disease_id": "DOID:0080474",
    "recommended_name": {
        "id": "DOID:0080474",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080474",
        "name": "pustular psoriasis 14",
        "description": "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080474",
            "name": "deficiency of IL-36R antagonist",
            "description": ""
        },
        {
            "id": "DOID:0080474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080474",
            "name": "acrodermatitis continua of Hallopeau",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "psoriasis 14, pustular",
            "description": "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene."
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "palmoplantar pustulosis",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "DITRA",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "IL36RN psoriasis",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "Interleukin 36 receptor antagonist deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "PSORP",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "PSORS14",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "acrodermatitis continua of Hallopeau",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "acrodermatitis continua suppurativa of Hallopeau",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "deficiency of IL-36R antagonist",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "deficiency of IL-36Ra",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "deficiency of the interleukin-36 receptor antagonist",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "familial generalised pustular psoriasis",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "psoriasis 14, pustular",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "psoriasis caused by mutation in IL36RN",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "GPP",
            "description": ""
        },
        {
            "id": "MONDO:0013626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "name": "generalised pustular psoriasis",
            "description": ""
        },
        {
            "id": "MIM:614204",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614204",
            "name": "Psoriasis 14, pustular",
            "description": "Psoriasis 14, pustular"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080474"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080474",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080474",
            "categories": []
        },
        {
            "id": "MONDO:0013626",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013626",
            "categories": []
        },
        {
            "id": "MIM:614204",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614204",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QYY1-1",
            "uniprot_ac": "Q9QYY1",
            "uniprot_id": "I36RA_MOUSE",
            "refseq_ac": "NP_001139559",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-36 receptor antagonist protein",
                    "type": "recommended"
                },
                {
                    "name": "IL-1 delta",
                    "type": "synonym"
                },
                {
                    "name": "IL-1F5",
                    "type": "synonym"
                },
                {
                    "name": "IL-1H3",
                    "type": "synonym"
                },
                {
                    "name": "IL-1HY1",
                    "type": "synonym"
                },
                {
                    "name": "IL-1L1",
                    "type": "synonym"
                },
                {
                    "name": "IL-36Ra",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 HY1",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 delta",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 family member 5",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 1 family, member 5 (delta)",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 1 receptor antagonist homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 HY1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 delta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 family member 5",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-36 receptor antagonist protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il36rn",
                    "type": "recommended"
                },
                {
                    "name": "Fil1delta",
                    "type": "synonym"
                },
                {
                    "name": "Fil1d",
                    "type": "synonym"
                },
                {
                    "name": "IL-36Ra",
                    "type": "synonym"
                },
                {
                    "name": "If36rn",
                    "type": "synonym"
                },
                {
                    "name": "Il-1h3",
                    "type": "synonym"
                },
                {
                    "name": "Il1f5",
                    "type": "synonym"
                },
                {
                    "name": "Il1h3",
                    "type": "synonym"
                },
                {
                    "name": "Il1hy1",
                    "type": "synonym"
                },
                {
                    "name": "Il36rn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYY1-1",
            "evidence": [
                {
                    "id": "0080474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBH0-1",
            "uniprot_ac": "Q9UBH0",
            "uniprot_id": "I36RA_HUMAN",
            "refseq_ac": "NP_036407",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-36 receptor antagonist protein",
                    "type": "recommended"
                },
                {
                    "name": "FIL1 delta",
                    "type": "synonym"
                },
                {
                    "name": "IL-1 delta",
                    "type": "synonym"
                },
                {
                    "name": "IL-1 related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "IL-1-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "IL-1F5 (IL-1HY1, FIL1-delta, IL-1RP3, IL-1L1, IL-1-delta)",
                    "type": "synonym"
                },
                {
                    "name": "IL-1F5",
                    "type": "synonym"
                },
                {
                    "name": "IL-1HY1",
                    "type": "synonym"
                },
                {
                    "name": "IL-1L1",
                    "type": "synonym"
                },
                {
                    "name": "IL-1RP3",
                    "type": "synonym"
                },
                {
                    "name": "IL-1ra homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "IL-36Ra",
                    "type": "synonym"
                },
                {
                    "name": "IL1F5 (Canonical product IL-1F5a)",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 HY1",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 delta",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 family member 5",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 receptor antagonist homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 1 family, member 5 (delta)",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 HY1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 receptor antagonist homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-36 receptor antagonist protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL36RN",
                    "type": "recommended"
                },
                {
                    "name": "FIL1(DELTA)",
                    "type": "synonym"
                },
                {
                    "name": "FIL1D",
                    "type": "synonym"
                },
                {
                    "name": "FIL1",
                    "type": "synonym"
                },
                {
                    "name": "IL-36Ra",
                    "type": "synonym"
                },
                {
                    "name": "IL1F5",
                    "type": "synonym"
                },
                {
                    "name": "IL1HY1",
                    "type": "synonym"
                },
                {
                    "name": "IL1L1",
                    "type": "synonym"
                },
                {
                    "name": "IL1RP3",
                    "type": "synonym"
                },
                {
                    "name": "IL36RA",
                    "type": "synonym"
                },
                {
                    "name": "IL36RN",
                    "type": "synonym"
                },
                {
                    "name": "PRO4342",
                    "type": "synonym"
                },
                {
                    "name": "PSORP",
                    "type": "synonym"
                },
                {
                    "name": "PSORS14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBH0-1",
            "evidence": [
                {
                    "id": "614204",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614204"
                },
                {
                    "id": "0080474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A1A6-1",
            "uniprot_ac": "D4A1A6",
            "uniprot_id": "D4A1A6_RAT",
            "refseq_ac": "NP_001101284",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-1",
                    "type": "recommended"
                },
                {
                    "name": "interleukin 1 family, member 5 (delta)",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 family member 5",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-36 receptor antagonist protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il36rn",
                    "type": "recommended"
                },
                {
                    "name": "Il1f5",
                    "type": "synonym"
                },
                {
                    "name": "Il36rn",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A1A6-1",
            "evidence": [
                {
                    "id": "0080474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080474"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080474"
}
