{
  "id": 13764,
  "label": "familial cold autoinflammatory syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012724",
  "properties": {
    "xrefs": [
      "DOID:0090063",
      "GARD:0017201",
      "MEDGEN:435869",
      "MESH:C567090",
      "NANDO:2200449",
      "NANDO:2200454",
      "NCIT:C119043",
      "OMIM:611762",
      "Orphanet:247868",
      "UMLS:C2673198"
    ],
    "synonyms": [
      "FCAS2",
      "NALP12-associated hereditary periodic fever syndrome",
      "NAPS12",
      "NLRP12 familial cold autoinflammatory syndrome",
      "NLRP12-associated hereditary periodic fever syndrome",
      "familial cold autoinflammatory syndrome 2",
      "familial cold autoinflammatory syndrome caused by mutation in NLRP12",
      "familial cold autoinflammatory syndrome type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month."
  },
  "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"
    }
  ]
}