{
  "id": 11549,
  "label": "immunodeficiency 33",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010386",
  "properties": {
    "xrefs": [
      "DOID:0112003",
      "GARD:0012915",
      "MEDGEN:370376",
      "MESH:C536289",
      "MESH:C567070",
      "OMIM:300584",
      "OMIM:300636",
      "Orphanet:319612",
      "UMLS:C1970879"
    ],
    "synonyms": [
      "IKBKG X-linked mendelian susceptibility to mycobacterial diseases",
      "IKBKG invasive pneumococcal disease, recurrent isolated",
      "IMD33",
      "IPD2",
      "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG",
      "immunodeficiency 33, Mycobacteriosis, X-linked",
      "immunodeficiency 33, X-linked recessive",
      "immunodeficiency type 33",
      "immunodeficiency without anhidrotic ectodermal dysplasia",
      "immunodeficiency, isolated",
      "immunodeficiency, pure",
      "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG",
      "invasive pneumococcal disease, recurrent isolated, 2",
      "invasive pneumococcal disease, recurrent isolated, type 2",
      "NEMO deficiency syndrome",
      "NF-kappa B essential modulator deficiency",
      "atypical Mycobacteriosis, familial, X-linked 1",
      "familial X-linked 1 atypical mycobacteriosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5658,
      "label": "inborn error of immunity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:612",
          "GARD:0019813",
          "MEDGEN:585013",
          "MESH:D007153",
          "NANDO:1200320",
          "NANDO:2100204",
          "Orphanet:101997",
          "SCTID:58606001",
          "UMLS:C0398686"
        ],
        "synonyms": [
          "IEI",
          "inborn errors of immunity",
          "primary immunodeficiency disease",
          "antibody deficiency syndrome",
          "antibody deficiency syndromes",
          "deficiency syndrome, antibody",
          "deficiency syndrome, immunologic",
          "deficiency syndrome, immunological",
          "deficiency syndromes, antibody",
          "deficiency syndromes, immunologic",
          "deficiency syndromes, immunological",
          "immune deficiency disorder",
          "immunodeficiency syndrome",
          "immunologic deficiency syndrome",
          "immunological deficiency syndrome",
          "immunological deficiency syndromes",
          "primary immunodeficiency",
          "syndrome, antibody deficiency",
          "syndrome, immunologic deficiency",
          "syndrome, immunological deficiency",
          "syndromes, antibody deficiency",
          "syndromes, immunologic deficiency",
          "syndromes, immunological deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder in which the immune system is unable to mount an adequate immune response."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003778"
    },
    {
      "id": 23904,
      "label": "IKBKG-related immunodeficiency with or without ectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "NEMO related ID/EDA-ID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100162"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5658,
      "label": "inborn error of immunity"
    },
    {
      "id": 23904,
      "label": "IKBKG-related immunodeficiency with or without ectodermal dysplasia"
    }
  ]
}