{
    "disease_id": "DOID:0090065",
    "recommended_name": {
        "id": "DOID:0090065",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090065",
        "name": "familial cold autoinflammatory syndrome 4",
        "description": "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22."
    },
    "synonyms": [
        {
            "id": "DOID:0090065",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090065",
            "name": "FCAS4",
            "description": ""
        },
        {
            "id": "MONDO:0014498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014498",
            "name": "familial cold autoinflammatory syndrome 4",
            "description": "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene."
        },
        {
            "id": "MONDO:0014498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014498",
            "name": "NLRC4 familial cold autoinflammatory syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014498",
            "name": "NLRC4-related familial cold autoinflammatory syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014498",
            "name": "familial cold autoinflammatory syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014498",
            "name": "familial cold autoinflammatory syndrome caused by mutation in NLRC4",
            "description": ""
        },
        {
            "id": "MONDO:0014498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014498",
            "name": "familial cold autoinflammatory syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014498",
            "name": "FCAS4",
            "description": ""
        },
        {
            "id": "MIM:616115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616115",
            "name": "Familial cold autoinflammatory syndrome 4",
            "description": "Familial cold autoinflammatory syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090065"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090065",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090065",
            "categories": []
        },
        {
            "id": "MONDO:0014498",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014498",
            "categories": []
        },
        {
            "id": "MIM:616115",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616115",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UP24-1",
            "uniprot_ac": "Q3UP24",
            "uniprot_id": "NLRC4_MOUSE",
            "refseq_ac": "NP_001028539",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NLR family CARD domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Caspase recruitment domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "Ice protease-activating factor",
                    "type": "synonym"
                },
                {
                    "name": "Ipaf",
                    "type": "synonym"
                },
                {
                    "name": "NLR family CARD domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain family, member 12",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "ice protease-activating factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nlrc4",
                    "type": "recommended"
                },
                {
                    "name": "9530011P19Rik",
                    "type": "synonym"
                },
                {
                    "name": "CLAN1",
                    "type": "synonym"
                },
                {
                    "name": "CLANA",
                    "type": "synonym"
                },
                {
                    "name": "CLANB",
                    "type": "synonym"
                },
                {
                    "name": "CLANC",
                    "type": "synonym"
                },
                {
                    "name": "CLAND",
                    "type": "synonym"
                },
                {
                    "name": "CLAN",
                    "type": "synonym"
                },
                {
                    "name": "Card12",
                    "type": "synonym"
                },
                {
                    "name": "IPAF",
                    "type": "synonym"
                },
                {
                    "name": "Ipaf",
                    "type": "synonym"
                },
                {
                    "name": "Nlrc4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UP24-1",
            "evidence": [
                {
                    "id": "0090065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPP4-1",
            "uniprot_ac": "Q9NPP4",
            "uniprot_id": "NLRC4_HUMAN",
            "refseq_ac": "NP_001186067",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NLR family CARD domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "CARD, LRR, and NACHT-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "CED-4-like protein Clan",
                    "type": "synonym"
                },
                {
                    "name": "Caspase recruitment domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "ICE-protease activating factor",
                    "type": "synonym"
                },
                {
                    "name": "Ice protease-activating factor",
                    "type": "synonym"
                },
                {
                    "name": "Ipaf",
                    "type": "synonym"
                },
                {
                    "name": "NLR family CARD domain-containing protein 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "NOD-like receptor C4",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain family, member 12",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NLRC4",
                    "type": "recommended"
                },
                {
                    "name": "AIFEC",
                    "type": "synonym"
                },
                {
                    "name": "CARD12",
                    "type": "synonym"
                },
                {
                    "name": "CLAN1",
                    "type": "synonym"
                },
                {
                    "name": "CLANA",
                    "type": "synonym"
                },
                {
                    "name": "CLANB",
                    "type": "synonym"
                },
                {
                    "name": "CLANC",
                    "type": "synonym"
                },
                {
                    "name": "CLAND",
                    "type": "synonym"
                },
                {
                    "name": "CLAN",
                    "type": "synonym"
                },
                {
                    "name": "CLR2.1",
                    "type": "synonym"
                },
                {
                    "name": "FCAS4",
                    "type": "synonym"
                },
                {
                    "name": "IPAF",
                    "type": "synonym"
                },
                {
                    "name": "NLRC4",
                    "type": "synonym"
                },
                {
                    "name": "PRO20215",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPP4-1",
            "evidence": [
                {
                    "id": "616115",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616115"
                },
                {
                    "id": "0090065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090065"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M649-1",
            "uniprot_ac": "F1M649",
            "uniprot_id": "NLRC4_RAT",
            "refseq_ac": "NP_001296361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NLR family CARD domain-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Ice protease-activating factor",
                    "type": "synonym"
                },
                {
                    "name": "Ipaf",
                    "type": "synonym"
                },
                {
                    "name": "NLR family CARD domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain family, member 12",
                    "type": "synonym"
                },
                {
                    "name": "ice protease-activating factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nlrc4",
                    "type": "recommended"
                },
                {
                    "name": "Card12",
                    "type": "synonym"
                },
                {
                    "name": "Ipaf",
                    "type": "synonym"
                },
                {
                    "name": "Nlrc4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M649-1",
            "evidence": [
                {
                    "id": "0090065",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090065"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090065"
}