{
  "id": 13722,
  "label": "immunodeficiency 35",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012682",
  "properties": {
    "xrefs": [
      "DOID:0111989",
      "GARD:0017514",
      "MEDGEN:409751",
      "MESH:C566928",
      "OMIM:611521",
      "Orphanet:331226",
      "UMLS:C1969086"
    ],
    "synonyms": [
      "HIES with atypical Mycobacteriosis, autosomal recessive",
      "IMD35",
      "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency",
      "TYK2 deficiency",
      "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency",
      "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2",
      "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive",
      "immunodeficiency 35",
      "immunodeficiency type 35",
      "susceptibility to infection due to TYK2 deficiency",
      "tyrosine kinase 2 deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}