{
  "id": 8742,
  "label": "familial cold autoinflammatory syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007349",
  "properties": {
    "xrefs": [
      "DOID:0090062",
      "GARD:0015051",
      "MEDGEN:1647324",
      "OMIM:120100",
      "SCTID:238687000",
      "UMLS:C4551895"
    ],
    "synonyms": [
      "NLRP3 familial cold autoinflammatory syndrome",
      "familial cold autoinflammatory syndrome 1",
      "familial cold autoinflammatory syndrome caused by mutation in NLRP3",
      "familial cold autoinflammatory syndrome type 1",
      "familial cold inflammatory syndrome 1",
      "Cryopyrin-associated periodic syndrome 1",
      "FCAS1",
      "Fcas",
      "cold hypersensitivity",
      "cold urticaria, familial",
      "cold-induced autoinflammatory syndrome, familial"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18733,
      "label": "familial cold autoinflammatory syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090061",
          "GARD:0009535",
          "MEDGEN:137986",
          "MedDRA:10064570",
          "NANDO:1200466",
          "NANDO:2200449",
          "NANDO:2200454",
          "NANDO:2201068",
          "NCIT:C119053",
          "NORD:1122",
          "OMIMPS:120100",
          "Orphanet:47045",
          "UMLS:C0343068",
          "icd11.foundation:1932140025"
        ],
        "synonyms": [
          "FCAS",
          "FCU",
          "familial cold autoinflammatory syndrome",
          "familial cold urticaria",
          "familial polymorphous cold eruption"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018768"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18733,
      "label": "familial cold autoinflammatory syndrome"
    }
  ]
}