{
  "id": 24844,
  "label": "multisystem autoimmune disease due to IKAROS gain of function",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800138",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8586,
      "label": "autoimmune disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:417",
          "EFO:0005809",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:720",
          "MEDGEN:2135",
          "MESH:D001327",
          "NCIT:C2889",
          "OBI:1110054",
          "OMIM:109100",
          "SCTID:85828009",
          "UMLS:C0004364"
        ],
        "synonyms": [
          "autoimmune disease",
          "autoimmune disease or disorder",
          "autoimmune disorder",
          "disease, autoimmune",
          "autoimmune hypersensitivity disease",
          "hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)."
      },
      "child_count": 47,
      "reference_id": "MONDO:0007179"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8586,
      "label": "autoimmune disease"
    }
  ]
}