{
  "id": 15265,
  "label": "immunodeficiency, common variable, 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014260",
  "properties": {
    "xrefs": [
      "DOID:0081152",
      "GARD:0015990",
      "MEDGEN:816321",
      "OMIM:615577",
      "UMLS:C3809991"
    ],
    "synonyms": [
      "NFKB2 common variable immunodeficiency",
      "common variable immunodeficiency caused by mutation in NFKB2",
      "immunodeficiency, common variable, 10",
      "immunodeficiency, common variable, type 10",
      "CVID10",
      "Deficit in anterior pituitary function and variable immunodeficiency",
      "immunodeficiency, common variable, with central adrenal insufficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16333,
      "label": "common variable immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12177",
          "GARD:0006140",
          "ICD10CM:D83",
          "ICD10WHO:D83",
          "ICD9:279.06",
          "MEDGEN:40407",
          "MESH:D017074",
          "MedDRA:10021449",
          "NANDO:1200344",
          "NANDO:2200717",
          "NCIT:C26725",
          "NORD:990",
          "OMIMPS:607594",
          "Orphanet:1572",
          "SCTID:23238000",
          "UMLS:C0009447",
          "icd11.foundation:1908371517"
        ],
        "synonyms": [
          "Common Variable Immune Deficiency",
          "idiopathic immunoglobulin deficiency",
          "primary antibody deficiency",
          "primary hypogammaglobulinemia",
          "secondary hypogammaglobulinemia",
          "Immunoglobulin deficiency, late-onset",
          "acquired agammaglobulinemia",
          "acquired hypogammaglobulinemia",
          "common variable hypogamma-globulinemia",
          "common variable immune deficiency",
          "hypogamma-globulinemia, acquired"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria."
      },
      "child_count": 16,
      "reference_id": "MONDO:0015517"
    }
  ],
  "children": [
    {
      "id": 17714,
      "label": "deficiency in anterior pituitary function - variable immunodeficiency syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15265,
        18727
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017353",
          "MEDGEN:1666981",
          "Orphanet:293978",
          "UMLS:C4751122"
        ],
        "synonyms": [
          "David syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017407"
    }
  ],
  "roots": [
    {
      "id": 16333,
      "label": "common variable immunodeficiency"
    }
  ]
}