{
  "id": 13434,
  "label": "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012383",
  "properties": {
    "xrefs": [
      "DOID:0111967",
      "GARD:0016695",
      "MEDGEN:351256",
      "MESH:C566492",
      "NANDO:2200771",
      "NCIT:C123729",
      "OMIM:609981",
      "Orphanet:75391",
      "SCTID:724275005",
      "UMLS:C1864947"
    ],
    "synonyms": [
      "mini-chromosome maintenance 4",
      "primary immunodeficiency due to MCM4 deficiency",
      "IMD54",
      "NKGCD",
      "immunodeficiency 54",
      "natural KILLER cell and glucocorticoid deficiency with DNA repair defect",
      "natural Killer cell deficiency, familial isolated"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21."
  },
  "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"
    }
  ]
}