{
  "id": 9158,
  "label": "hyper-IgE recurrent infection syndrome 1, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007818",
  "properties": {
    "xrefs": [
      "DOID:3261",
      "GARD:0006800",
      "MEDGEN:445391",
      "MESH:C564135",
      "MESH:C567925",
      "NCIT:C126342",
      "OMIM:146840",
      "OMIM:147060",
      "Orphanet:2314",
      "SCTID:50926003",
      "UMLS:C2936739"
    ],
    "synonyms": [
      "hyper-IgE recurrent infection syndrome",
      "hyperimmunoglobulin E-recurrent infection syndrome",
      "AD hyperimmunoglobulin E syndrome",
      "AD-HIES",
      "Buckley syndrome",
      "HIES autosomal dominant",
      "HIES, autosomal dominant",
      "JOB syndrome",
      "Job syndrome autosomal dominant",
      "Job's syndrome",
      "STAT3 deficiency",
      "autosomal dominant HIES",
      "autosomal dominant hyper IgE syndrome",
      "autosomal dominant hyper-IgE syndrome",
      "autosomal dominant hyperimmunoglobulin E syndrome",
      "hyper Ig E syndrome, autosomal dominant",
      "hyper-IgE recurrent infection syndrome, autosomal dominant",
      "hyper-IgE syndrome, autosomal dominant",
      "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant",
      "hyperimmunoglobulin E syndrome type 1",
      "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 18207,
      "label": "hyper-IgE syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4548
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080545",
          "GARD:0010956",
          "MEDGEN:854488",
          "NANDO:1200340",
          "NANDO:2200713",
          "NCIT:C3144",
          "OMIMPS:147060",
          "Orphanet:331223",
          "UMLS:C3887645",
          "icd11.foundation:223461798"
        ],
        "synonyms": [
          "HIES",
          "hyper-IgE recurrent infection syndrome",
          "hyperimmunoglobulin E syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections."
      },
      "child_count": 14,
      "reference_id": "MONDO:0018037"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18207,
      "label": "hyper-IgE syndrome"
    }
  ]
}