{
  "id": 26261,
  "label": "RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979261",
  "properties": {
    "xrefs": [
      "Orphanet:692812"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16075,
      "label": "combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111962",
          "DOID:628",
          "GARD:0019806",
          "ICD9:279.2",
          "MEDGEN:751396",
          "NANDO:2100203",
          "NCIT:C27871",
          "Orphanet:101972",
          "UMLS:C2711630",
          "icd11.foundation:1616506198"
        ],
        "synonyms": [
          "CID",
          "congenital combined immunodeficiency",
          "X-linked combined immunodeficiency",
          "combined T and B cell immunodeficiency",
          "combined T cell and B cell immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015131"
    }
  ],
  "children": [
    {
      "id": 22680,
      "label": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18070,
        26261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112061",
          "GARD:0025808",
          "MEDGEN:1740566",
          "OMIM:618986",
          "UMLS:C5436549"
        ],
        "synonyms": [
          "IMD73B",
          "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
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      "child_count": 0,
      "reference_id": "MONDO:0033554"
    },
    {
      "id": 22681,
      "label": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18070,
        26261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
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          "GARD:0018300",
          "MEDGEN:1734177",
          "OMIM:618987",
          "UMLS:C5436550"
        ],
        "synonyms": [
          "IMD73C",
          "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
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          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
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        ]
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      "reference_id": "MONDO:0033555"
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  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    }
  ]
}