{
  "id": 15798,
  "label": "pancytopenia due to IKZF1 mutations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014810",
  "properties": {
    "xrefs": [
      "DOID:0081155",
      "GARD:0017442",
      "MEDGEN:905078",
      "OMIM:616873",
      "Orphanet:317473",
      "UMLS:C4225173",
      "icd11.foundation:1240674590"
    ],
    "synonyms": [
      "CVID13",
      "Cid due to IKAROS deficiency",
      "IKZF1 syndrome with combined immunodeficiency",
      "combined immunodeficiency due to IKAROS deficiency",
      "immunodeficiency, common variable, 13",
      "immunodeficiency, common variable, type 13",
      "syndrome with combined immunodeficiency caused by mutation in IKZF1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 16333,
      "label": "common variable immunodeficiency"
    }
  ]
}