{
  "id": 4548,
  "label": "hyperimmunoglobulin syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002468",
  "properties": {
    "xrefs": [
      "DOID:2959",
      "GARD:0023142",
      "MEDGEN:272730",
      "NCIT:C27579",
      "UMLS:C1334069"
    ],
    "synonyms": [
      "hyperimmunoglobulin syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4332,
      "label": "B cell deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6569,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2115",
          "GARD:0023084",
          "ICD9:279.03",
          "MEDGEN:340780",
          "NCIT:C4799",
          "UMLS:C1855067"
        ],
        "synonyms": [
          "B-cell deficiency",
          "deficiency of humoral immunity",
          "immunoglobulin heavy chain deficiency",
          "immunoglobulin heavy chain deletion"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient."
      },
      "child_count": 15,
      "reference_id": "MONDO:0002211"
    }
  ],
  "children": [
    {
      "id": 5806,
      "label": "hyper-IgM syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4548
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080544",
          "GARD:0023748",
          "ICD9:279.05",
          "MEDGEN:124420",
          "MESH:D053306",
          "NANDO:1200345",
          "NANDO:2200718",
          "NCIT:C3990",
          "NCIT:C84783",
          "OMIMPS:308230",
          "SCTID:82286005",
          "UMLS:C0272236"
        ],
        "synonyms": [
          "immunodeficiency with hyper-IgM",
          "hyperimmunoglobulin M syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation."
      },
      "child_count": 5,
      "reference_id": "MONDO:0003947"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4332,
      "label": "B cell deficiency"
    }
  ]
}