{
  "id": 15497,
  "label": "familial cold autoinflammatory syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014498",
  "properties": {
    "xrefs": [
      "DOID:0090065",
      "GARD:0016061",
      "MEDGEN:863713",
      "OMIM:616115",
      "Orphanet:576349",
      "UMLS:C4015276"
    ],
    "synonyms": [
      "NLRC4 familial cold autoinflammatory syndrome",
      "NLRC4-related familial cold autoinflammatory syndrome",
      "familial cold autoinflammatory syndrome 4",
      "familial cold autoinflammatory syndrome caused by mutation in NLRC4",
      "familial cold autoinflammatory syndrome type 4",
      "FCAS4"
    ],
    "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 NLRC4 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"
    }
  ]
}