{
  "id": 23904,
  "label": "IKBKG-related immunodeficiency with or without ectodermal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100162",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 20334,
      "label": "immunodeficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:279.3",
          "MEDGEN:7034",
          "NANDO:2100204",
          "NCIT:C3131",
          "OMIMPS:300755",
          "SCTID:234532001",
          "UMLS:C0021051"
        ],
        "synonyms": [
          "immuno-deficiency",
          "immunodeficiency",
          "immunodeficiency disorder",
          "immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021094"
    }
  ],
  "children": [
    {
      "id": 11467,
      "label": "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17540,
        19138,
        19154,
        23904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016681",
          "MEDGEN:929406",
          "MESH:C564538",
          "OMIM:300301",
          "Orphanet:69088",
          "SCTID:720986005",
          "UMLS:C4303737"
        ],
        "synonyms": [
          "OL-EDA-ID",
          "ol-EDA-ID",
          "OLEDAID",
          "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010295"
    },
    {
      "id": 11549,
      "label": "immunodeficiency 33",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5658,
        23904
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010386"
    },
    {
      "id": 20144,
      "label": "ectodermal dysplasia and immunodeficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11465,
        23904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081078",
          "GARD:0025232",
          "MEDGEN:375787",
          "NCIT:C176592",
          "OMIM:300291",
          "UMLS:C1846008"
        ],
        "synonyms": [
          "EDA-Id",
          "HED-Id",
          "EDAID1",
          "ectodermal dysplasia and immunodeficiency 1, X-linked recessive",
          "ectodermal dysplasia, anhidrotic, with immune deficiency 1",
          "ectodermal dysplasia, hypohidrotic, with immune deficiency 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020740"
    }
  ],
  "roots": [
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}