{
  "id": 16767,
  "label": "cryopyrin-associated periodic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016168",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 6778,
      "label": "immune system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2914",
          "EFO:0000540",
          "ICD9:279",
          "ICD9:279.1",
          "ICD9:279.10",
          "ICD9:279.19",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:279.8",
          "ICD9:279.9",
          "MEDGEN:5759",
          "MESH:D007154",
          "NANDO:1100004",
          "NANDO:2100202",
          "NCIT:C3507",
          "SCTID:414029004",
          "UMLS:C0021053"
        ],
        "synonyms": [
          "disease of immune system",
          "disease or disorder of immune system",
          "disorder of immune system",
          "immune disease",
          "immune disorder",
          "immune dysfunction",
          "immune system disease or disorder",
          "immune system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from an abnormality in the immune system."
      },
      "child_count": 47,
      "reference_id": "MONDO:0005046"
    },
    {
      "id": 18150,
      "label": "hereditary periodic fever syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16077,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021453",
          "MEDGEN:199651",
          "MESH:D056660",
          "Orphanet:324924",
          "UMLS:C0751422"
        ],
        "synonyms": [
          "hereditary periodic fever syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017953"
    }
  ],
  "children": [
    {
      "id": 9915,
      "label": "Muckle-Wells syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16767
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008633"
    },
    {
      "id": 12860,
      "label": "CINCA syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        16767
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090029",
          "GARD:0001356",
          "ICD9:759.89",
          "MEDGEN:98370",
          "NANDO:1200468",
          "NANDO:2201066",
          "NCIT:C116380",
          "NORD:1496",
          "OMIM:607115",
          "Orphanet:1451",
          "SCTID:239826001",
          "UMLS:C0409818"
        ],
        "synonyms": [
          "CINCA syndrome",
          "CINCA/NOMID",
          "IOMID syndrome",
          "NOMID",
          "NOMID syndrome",
          "Neonatal-Onset Multisystem Inflammatory Disease",
          "Prieur-Griscelli syndrome",
          "chronic infantile neurological cutaneous and articular syndrome",
          "chronic neurologic cutaneous and articular syndrome",
          "cryopyrin-associated periodic syndrome 3",
          "infantile-onset multisystem inflammatory disease",
          "neonatal-onset multisystem inflammatory disease",
          "CINCA",
          "Cryopyrin-associated periodic syndrome 3",
          "IOMID",
          "Prieur Griscelli syndrome",
          "infantile onset multisystem inflammatory disease",
          "multisystem inflammatory disease, neonatal-onset",
          "neonatal onset multisystem inflammatory disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011776"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 6778,
      "label": "immune system disorder"
    },
    {
      "id": 18150,
      "label": "hereditary periodic fever syndrome"
    }
  ]
}