{
  "id": 24852,
  "label": "agammaglobulinemia, autosomal recessive, due to BOB1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800146",
  "properties": {
    "xrefs": [
      "GARD:0026458"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16629,
      "label": "agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2583",
          "GARD:0020320",
          "ICD9:279.00",
          "MEDGEN:168",
          "MESH:D000361",
          "MedDRA:10001471",
          "OMIMPS:601495",
          "Orphanet:183669",
          "UMLS:C0001768"
        ],
        "synonyms": [
          "agammaglobulinemia",
          "Gammaglobulin Deficiency",
          "Immunoglobulin Deficiency",
          "antibody Deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes."
      },
      "child_count": 10,
      "reference_id": "MONDO:0015977"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16629,
      "label": "agammaglobulinemia"
    }
  ]
}