{
  "id": 23106,
  "label": "GATA2 deficiency with susceptibility to MDS/AML",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0042982",
  "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])."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 14568,
      "label": "deafness-lymphedema-leukemia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7217,
        19154,
        23106
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013030",
          "ICD9:757.0",
          "MEDGEN:481294",
          "OMIM:614038",
          "Orphanet:3226",
          "SCTID:700057001",
          "UMLS:C3279664",
          "icd11.foundation:1818043307"
        ],
        "synonyms": [
          "Emberger syndrome",
          "deafness-lymphedema-leukemia syndrome",
          "lymphedema, primary, with myelodysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013540"
    },
    {
      "id": 14633,
      "label": "monocytopenia with susceptibility to infections",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23106
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013607"
    }
  ],
  "roots": [
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}