{
  "id": 14059,
  "label": "sterile multifocal osteomyelitis with periostitis and pustulosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013021",
  "properties": {
    "xrefs": [
      "DOID:0061225",
      "GARD:0010516",
      "MEDGEN:411230",
      "MESH:C557815",
      "NANDO:2200439",
      "NCIT:C119056",
      "OMIM:612852",
      "Orphanet:210115",
      "UMLS:C2748507"
    ],
    "synonyms": [
      "DIRA",
      "Interleukin-1 receptor antagonist deficiency",
      "OMPP",
      "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency",
      "deficiency of the Interleukin-1 receptor antagonist",
      "Interleukin 1 receptor antagonist deficiency",
      "deficiency of interleukin-1 receptor antagonist",
      "osteomyelitis, STERILE multifocal, with periostitis and pustulosis"
    ],
    "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"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11021,
      "label": "chronic recurrent multifocal osteomyelitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6951,
        19503,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060645",
          "GARD:0006108",
          "HP:0002754",
          "ICD10CM:M86.3",
          "MEDGEN:140822",
          "MESH:C535456",
          "NANDO:1200869",
          "NANDO:2200438",
          "NCIT:C119042",
          "OMIMPS:609628",
          "Orphanet:324964",
          "SCTID:240151005",
          "UMLS:C0410422",
          "icd11.foundation:1256384247"
        ],
        "synonyms": [
          "CNO/CRMO",
          "CRMO",
          "NBO",
          "chronic multifocal osteomyelitis",
          "chronic recurrent multifocal osteomyelitis",
          "chronic recurrent multifocal osteomyelitis (disease)",
          "non-bacterial osteomyelitis",
          "CMO",
          "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis",
          "multifocal osteomyelitis, chronic",
          "osteomyelitis, chronic multifocal"
        ],
        "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"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine."
      },
      "child_count": 9,
      "reference_id": "MONDO:0009813"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11021,
      "label": "chronic recurrent multifocal osteomyelitis"
    }
  ]
}