{
  "id": 14784,
  "label": "familial cold autoinflammatory syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013766",
  "properties": {
    "xrefs": [
      "DOID:0090064",
      "GARD:0017369",
      "MEDGEN:482544",
      "NANDO:2200455",
      "OMIM:614468",
      "Orphanet:300359",
      "UMLS:C3280914"
    ],
    "synonyms": [
      "FACU",
      "PLAID",
      "PLCG2 familial cold autoinflammatory syndrome",
      "familial atypical cold urticaria",
      "familial cold autoinflammatory syndrome 3",
      "familial cold autoinflammatory syndrome caused by mutation in PLCG2",
      "familial cold autoinflammatory syndrome type 3",
      "familial cold urticaria with common variable immunodeficiency",
      "plaid",
      "FCAS3",
      "PLCG2-associated antibody deficiency and immune dysregulation",
      "antibody deficiency and immune dysregulation, PLCG2-associated"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease."
  },
  "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"
    }
  ]
}