{
  "id": 14189,
  "label": "inflammatory bowel disease 28",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013153",
  "properties": {
    "xrefs": [
      "DOID:0110899",
      "GARD:0018343",
      "MEDGEN:442630",
      "MESH:C567728",
      "NANDO:2200447",
      "NCIT:C164676",
      "OMIM:613148",
      "UMLS:C2751053"
    ],
    "synonyms": [
      "IBD28",
      "IL10RA inflammatory bowel disease",
      "inflammatory bowel disease 28",
      "inflammatory bowel disease 28, autosomal recessive",
      "inflammatory bowel disease 28, early onset, autosomal recessive",
      "inflammatory bowel disease caused by mutation in IL10RA",
      "inflammatory bowel disease type 28",
      "inflammatory bowel disease, early-onset, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17037,
      "label": "IL10-related early-onset inflammatory bowel disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6965,
        7203,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013016",
          "MEDGEN:1661450",
          "NANDO:2200446",
          "Orphanet:238569",
          "UMLS:C4749850"
        ],
        "synonyms": [
          "IL10-related early-onset IBD",
          "IL10-related early-onset inflammatory bowel disease",
          "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome",
          "autosomal recessive early-onset IBD",
          "autosomal recessive early-onset inflammatory bowel disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016542"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17037,
      "label": "IL10-related early-onset inflammatory bowel disease"
    }
  ]
}