{
  "id": 17037,
  "label": "IL10-related early-onset inflammatory bowel disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016542",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    },
    {
      "id": 6965,
      "label": "inflammatory bowel disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6756,
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050589",
          "EFO:0003767",
          "ICD9:558.9",
          "MEDGEN:43877",
          "MESH:D015212",
          "NANDO:2100259",
          "NCIT:C3138",
          "OMIMPS:266600",
          "SCTID:24526004",
          "UMLS:C0021390"
        ],
        "synonyms": [
          "IBD",
          "autoimmune bowel disorder",
          "inflammatory bowel disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type."
      },
      "child_count": 120,
      "reference_id": "MONDO:0005265"
    },
    {
      "id": 7203,
      "label": "rheumatic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1575",
          "EFO:0005755",
          "ICD9:729.0",
          "MEDGEN:3157",
          "MESH:D012216",
          "NANDO:2100151",
          "NANDO:2100152",
          "NCIT:C27204",
          "SCTID:396332003",
          "UMLS:C0009326",
          "Wikipedia:Rheumatism"
        ],
        "synonyms": [
          "rheumatic disease",
          "rheumatologic disorder",
          "collagen disease",
          "collagen vascular disease",
          "connective tissue disease",
          "disease, rheumatic",
          "diseases, rheumatic",
          "enthesopathies",
          "enthesopathy",
          "inflammatory rheumatism",
          "musculoskeletal pain disorder",
          "rheumatism"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis."
      },
      "child_count": 30,
      "reference_id": "MONDO:0005554"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [
    {
      "id": 13981,
      "label": "inflammatory bowel disease 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17037
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110909",
          "GARD:0018342",
          "MEDGEN:393403",
          "MESH:C567251",
          "NANDO:2200448",
          "OMIM:612567",
          "UMLS:C2675508"
        ],
        "synonyms": [
          "IBD25",
          "IL10RB inflammatory bowel disease",
          "inflammatory bowel disease 25, early onset, autosomal recessive",
          "inflammatory bowel disease caused by mutation in IL10RB",
          "inflammatory bowel disease type 25",
          "inflammatory bowel disease 25, autosomal recessive",
          "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 IL10RB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012941"
    },
    {
      "id": 14189,
      "label": "inflammatory bowel disease 28",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17037
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013153"
    }
  ],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 6965,
      "label": "inflammatory bowel disease"
    },
    {
      "id": 7203,
      "label": "rheumatic disorder"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}