{
  "id": 24764,
  "label": "autoinflammation and autoimmunity with immune dysregulation 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700391",
  "properties": {
    "xrefs": [
      "OMIM:616414"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 15625,
      "label": "autoimmune interstitial lung disease-arthritis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6815,
        21247,
        25666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081242",
          "GARD:0017762",
          "NORD:1973",
          "OMIMPS:616414",
          "Orphanet:444092"
        ],
        "synonyms": [
          "COPA Syndrome",
          "autoinflammation and autoimmunity, systemic, with immune dysregulation",
          "AILJK",
          "autoimmune interstitial lung, joint, and kidney disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease."
      },
      "child_count": 6,
      "reference_id": "MONDO:0014629"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 15625,
      "label": "autoimmune interstitial lung disease-arthritis syndrome"
    }
  ]
}