{
  "id": 9915,
  "label": "Muckle-Wells syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008633",
  "properties": {
    "xrefs": [
      "DOID:0050854",
      "GARD:0008472",
      "ICD9:708.8",
      "MEDGEN:120634",
      "MedDRA:10064569",
      "NANDO:1200467",
      "NANDO:2201067",
      "NCIT:C119054",
      "NORD:1459",
      "OMIM:191900",
      "Orphanet:575",
      "SCTID:402417009",
      "UMLS:C0268390",
      "icd11.foundation:1983358487"
    ],
    "synonyms": [
      "Muckle-Wells syndrome",
      "neutrophilic urticaria",
      "Cryopyrin-associated periodic syndrome 2",
      "MUCKLE-Wells syndrome",
      "MWS",
      "Muckle Wells syndrome",
      "Uda syndrome",
      "urticaria, deafness and amyloidosis",
      "urticaria-deafness-amyloidosis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16767,
      "label": "cryopyrin-associated periodic syndrome"
    }
  ]
}