{
  "id": 18733,
  "label": "familial cold autoinflammatory syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018768",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16767,
      "label": "cryopyrin-associated periodic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        18150
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010927",
          "ICD9:759.89",
          "MEDGEN:412215",
          "MESH:D056587",
          "MedDRA:10068850",
          "NANDO:1200465",
          "NANDO:2200432",
          "NCIT:C84657",
          "Orphanet:208650",
          "SCTID:430079001",
          "UMLS:C2316212",
          "icd11.foundation:2139918612"
        ],
        "synonyms": [
          "caps",
          "Cryopyrinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016168"
    }
  ],
  "children": [
    {
      "id": 8742,
      "label": "familial cold autoinflammatory syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18733
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007349"
    },
    {
      "id": 13764,
      "label": "familial cold autoinflammatory syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18733
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012724"
    },
    {
      "id": 14784,
      "label": "familial cold autoinflammatory syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18733
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013766"
    },
    {
      "id": 15497,
      "label": "familial cold autoinflammatory syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18733
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014498"
    }
  ],
  "roots": [
    {
      "id": 16767,
      "label": "cryopyrin-associated periodic syndrome"
    }
  ]
}