{
  "id": 14633,
  "label": "monocytopenia with susceptibility to infections",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013607",
  "properties": {
    "xrefs": [
      "DOID:0111947",
      "GARD:0010934",
      "MEDGEN:481660",
      "OMIM:614172",
      "Orphanet:228423",
      "UMLS:C3280030",
      "icd11.foundation:1077753382"
    ],
    "synonyms": [
      "MonoMAC",
      "immunodeficiency type 21",
      "monocytopenia and mycobacterial infection syndrome",
      "DCML",
      "Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency",
      "GATA2 deficiency",
      "IMD21",
      "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections",
      "immunodeficiency 21",
      "monocyte - B - natural killer - dendritic cell deficiency",
      "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23106,
      "label": "GATA2 deficiency with susceptibility to MDS/AML",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027059",
          "NCIT:C126349"
        ],
        "synonyms": [
          "GATA2 deficiency",
          "GATA2 deficiency with susceptibility to MDS/AML",
          "GATA2 deficiency/MonoMac syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])."
      },
      "child_count": 2,
      "reference_id": "MONDO:0042982"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23106,
      "label": "GATA2 deficiency with susceptibility to MDS/AML"
    }
  ]
}