{
    "disease_id": "DOID:0090061",
    "recommended_name": {
        "id": "DOID:0090061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090061",
        "name": "familial cold autoinflammatory syndrome",
        "description": "An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."
    },
    "synonyms": [
        {
            "id": "DOID:0090061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090061",
            "name": "FCAS",
            "description": ""
        },
        {
            "id": "MONDO:0007349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007349",
            "name": "familial cold autoinflammatory syndrome 1",
            "description": "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene."
        },
        {
            "id": "MONDO:0007349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007349",
            "name": "NLRP3 familial cold autoinflammatory syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007349",
            "name": "familial cold autoinflammatory syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007349",
            "name": "familial cold autoinflammatory syndrome caused by mutation in NLRP3",
            "description": ""
        },
        {
            "id": "MONDO:0007349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007349",
            "name": "familial cold autoinflammatory syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007349",
            "name": "familial cold inflammatory syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007349",
            "name": "FCAS1",
            "description": ""
        },
        {
            "id": "MIM:120100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/120100",
            "name": "Familial cold autoinflammatory syndrome 1",
            "description": "Familial cold autoinflammatory syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0090062",
            "label": "familial cold autoinflammatory syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090063",
            "label": "familial cold autoinflammatory syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090064",
            "label": "familial cold autoinflammatory syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090065",
            "label": "familial cold autoinflammatory syndrome 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090065",
        "DOID:0090064",
        "DOID:0090062",
        "DOID:0090061",
        "DOID:0090063"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090061",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090061",
            "categories": []
        },
        {
            "id": "MONDO:0007349",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007349",
            "categories": []
        },
        {
            "id": "MIM:120100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/120100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96P20-1",
            "uniprot_ac": "Q96P20",
            "uniprot_id": "NLRP3_HUMAN",
            "refseq_ac": "NP_001230062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NACHT, LRR and PYD domains-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Angiotensin/vasopressin receptor AII/AVP-like",
                    "type": "synonym"
                },
                {
                    "name": "CLR1.1",
                    "type": "synonym"
                },
                {
                    "name": "Caterpiller protein 1.1",
                    "type": "synonym"
                },
                {
                    "name": "Cold-induced autoinflammatory syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Cryopyrin",
                    "type": "synonym"
                },
                {
                    "name": "NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "NACHT, LRR and PYD containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "NACHT, LRR and PYD domains-containing protein 3 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "NACHT, LRR and PYD domains-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PYRIN-containing APAF1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "caterpiller protein 1.1",
                    "type": "synonym"
                },
                {
                    "name": "cold autoinflammatory syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "cold-induced autoinflammatory syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "cryopyrin, NACHT, LRR and PYD domains - containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "cryopyrin",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 34",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NLRP3",
                    "type": "recommended"
                },
                {
                    "name": "AGTAVPRL",
                    "type": "synonym"
                },
                {
                    "name": "AII",
                    "type": "synonym"
                },
                {
                    "name": "AVP",
                    "type": "synonym"
                },
                {
                    "name": "C1orf7",
                    "type": "synonym"
                },
                {
                    "name": "CIAS1",
                    "type": "synonym"
                },
                {
                    "name": "CLR1.1",
                    "type": "synonym"
                },
                {
                    "name": "DFNA34",
                    "type": "synonym"
                },
                {
                    "name": "FCAS1",
                    "type": "synonym"
                },
                {
                    "name": "FCAS",
                    "type": "synonym"
                },
                {
                    "name": "FCU",
                    "type": "synonym"
                },
                {
                    "name": "KEFH",
                    "type": "synonym"
                },
                {
                    "name": "MWS",
                    "type": "synonym"
                },
                {
                    "name": "NALP3",
                    "type": "synonym"
                },
                {
                    "name": "NLRP3",
                    "type": "synonym"
                },
                {
                    "name": "PYPAF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96P20-1",
            "evidence": [
                {
                    "id": "120100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/120100"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090061"
}