{
  "id": 16333,
  "label": "common variable immunodeficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015517",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 16,
  "parents": [
    {
      "id": 16974,
      "label": "syndromic agammaglobulinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020596",
          "MEDGEN:1843258",
          "NCIT:C26931",
          "Orphanet:229720",
          "UMLS:C5680904"
        ],
        "synonyms": [
          "hypogammaglobulinemia",
          "syndrome associated with agammaglobulinemia",
          "syndromic agammaglobulinemia",
          "syndromic hypogammaglobulinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A agammaglobulinemia that is part of a larger syndrome."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016463"
    }
  ],
  "children": [
    {
      "id": 9156,
      "label": "immune deficiency, familial variable",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002984",
          "MEDGEN:374426",
          "MESH:C564136",
          "OMIM:146830",
          "UMLS:C1840266"
        ],
        "synonyms": [
          "immune deficiency, familial variable"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007814"
    },
    {
      "id": 10644,
      "label": "immunodeficiency, common variable, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081145",
          "GARD:0015184",
          "MEDGEN:461704",
          "OMIM:240500",
          "UMLS:C3150354"
        ],
        "synonyms": [
          "immunodeficiency, common variable, 2",
          "immunodeficiency, common variable, type 2",
          "CVID2",
          "antibody deficiency due to TACI defect",
          "hypogammaglobulinemia due to TACI deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009413"
    },
    {
      "id": 12944,
      "label": "immunodeficiency, common variable, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081144",
          "GARD:0024829",
          "MEDGEN:460728",
          "OMIM:607594",
          "Orphanet:695183",
          "UMLS:C3149378"
        ],
        "synonyms": [
          "immunodeficiency, common variable, 1",
          "immunodeficiency, common variable, type 1",
          "CVID1",
          "antibody deficiency due to Icos defect",
          "immunodeficiency, common variable"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011864"
    },
    {
      "id": 14318,
      "label": "immunodeficiency, common variable, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081146",
          "GARD:0015668",
          "MEDGEN:462088",
          "OMIM:613493",
          "UMLS:C3150738"
        ],
        "synonyms": [
          "immunodeficiency, common variable, 3",
          "immunodeficiency, common variable, type 3",
          "CVID3",
          "antibody deficiency due to CD19 defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013283"
    },
    {
      "id": 14319,
      "label": "immunodeficiency, common variable, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081147",
          "GARD:0015669",
          "MEDGEN:462089",
          "OMIM:613494",
          "Orphanet:696925",
          "UMLS:C3150739"
        ],
        "synonyms": [
          "immunodeficiency, common variable, 4",
          "immunodeficiency, common variable, type 4",
          "CVID4",
          "antibody deficiency due to Baffr defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013284"
    },
    {
      "id": 14320,
      "label": "immunodeficiency, common variable, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081148",
          "GARD:0015670",
          "MEDGEN:462090",
          "OMIM:613495",
          "UMLS:C3150740"
        ],
        "synonyms": [
          "MS4A1 common variable immunodeficiency",
          "common variable immunodeficiency caused by mutation in MS4A1",
          "immunodeficiency, common variable, 5",
          "immunodeficiency, common variable, type 5",
          "CVID5",
          "antibody deficiency due to CD20 defect"
        ],
        "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 MS4A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013285"
    },
    {
      "id": 14321,
      "label": "immunodeficiency, common variable, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081149",
          "GARD:0015671",
          "MEDGEN:462091",
          "OMIM:613496",
          "UMLS:C3150741"
        ],
        "synonyms": [
          "CD81 common variable immunodeficiency",
          "common variable immunodeficiency caused by mutation in CD81",
          "immunodeficiency, common variable, 6",
          "immunodeficiency, common variable, type 6",
          "CVID6",
          "antibody deficiency due to CD81 defect"
        ],
        "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 CD81 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013286"
    },
    {
      "id": 14874,
      "label": "immunodeficiency, common variable, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081150",
          "GARD:0015836",
          "MEDGEN:762276",
          "NANDO:2200801",
          "OMIM:614699",
          "Orphanet:696894",
          "UMLS:C3542922"
        ],
        "synonyms": [
          "immunodeficiency, common variable, 7",
          "immunodeficiency, common variable, type 7",
          "CVID7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013862"
    },
    {
      "id": 14875,
      "label": "combined immunodeficiency due to LRBA deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081151",
          "GARD:0013565",
          "MEDGEN:766426",
          "NCIT:C17680",
          "OMIM:614700",
          "Orphanet:445018",
          "UMLS:C3553512"
        ],
        "synonyms": [
          "CID due to LRBA deficiency",
          "combined immunodeficiency due to LRBA deficiency",
          "CVID8",
          "immunodeficiency, common variable, 8, with autoimmunity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013863"
    },
    {
      "id": 15265,
      "label": "immunodeficiency, common variable, 10",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0014260"
    },
    {
      "id": 15340,
      "label": "IL21-related infantile inflammatory bowel disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081153",
          "GARD:0017852",
          "MEDGEN:1799211",
          "NCIT:C176801",
          "OMIM:615767",
          "Orphanet:477661",
          "UMLS:C5567788"
        ],
        "synonyms": [
          "IL21-related infantile IBD",
          "immunodeficiency, common variable, type 11",
          "CVID11",
          "IL21 deficiency",
          "immunodeficiency, common variable, 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014338"
    },
    {
      "id": 15691,
      "label": "immunodeficiency, common variable, 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081154",
          "GARD:0016141",
          "MEDGEN:906018",
          "OMIM:616576",
          "Orphanet:696874",
          "UMLS:C4225277"
        ],
        "synonyms": [
          "NFKB1 common variable immunodeficiency",
          "common variable immunodeficiency caused by mutation in NFKB1",
          "immunodeficiency, common variable, 12",
          "immunodeficiency, common variable, type 12",
          "CVID12",
          "NFKB1 deficiency"
        ],
        "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 NFKB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014697"
    },
    {
      "id": 15798,
      "label": "pancytopenia due to IKZF1 mutations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014810"
    },
    {
      "id": 23581,
      "label": "immunodeficiency, common variable, 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081156",
          "GARD:0025961",
          "MEDGEN:1614928",
          "OMIM:617765",
          "Orphanet:696904",
          "UMLS:C4540380"
        ],
        "synonyms": [
          "immunodeficiency, common variable, 14",
          "CVID14",
          "immunodeficiency, COMMON variable, 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054691"
    },
    {
      "id": 24855,
      "label": "immunodeficiency, common variable, due to APRIL deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026461"
        ],
        "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 an autosomal recessive variation in the TNFSF13 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800149"
    },
    {
      "id": 25799,
      "label": "immunodeficiency, common variable, 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16333,
        24066
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026910",
          "MEDGEN:1847802",
          "OMIM:620670",
          "Orphanet:697417",
          "UMLS:C5882741"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958013"
    }
  ],
  "roots": [
    {
      "id": 16974,
      "label": "syndromic agammaglobulinemia"
    }
  ]
}