{
  "id": 10704,
  "label": "combined immunodeficiency due to DOCK8 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009478",
  "properties": {
    "xrefs": [
      "DOID:0080594",
      "GARD:0002816",
      "MEDGEN:1648410",
      "NCIT:C126343",
      "OMIM:243700",
      "Orphanet:217390",
      "UMLS:C4722305",
      "icd11.foundation:136043326"
    ],
    "synonyms": [
      "Cid due to DOCK8 deficiency",
      "DOCK8 immunodeficiency syndrome",
      "combined immunodeficiency due to DOCK8 deficiency",
      "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency",
      "dedicator of cytokinesis 8 deficiency",
      "AR hyperimmunoglobulin E syndrome",
      "AR-HIES",
      "DOCK8 deficiency",
      "HIES autosomal recessive",
      "HIES, autosomal recessive",
      "autosomal recessive hyper IgE syndrome",
      "hyper Ig E syndrome, autosomal recessive",
      "hyper-IgE recurrent infection syndrome, autosomal recessive",
      "hyper-IgE syndrome, autosomal recessive",
      "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18207,
      "label": "hyper-IgE syndrome"
    }
  ]
}