{
  "id": 25826,
  "label": "autosomal recessive combined immunodeficiency due to complete IL6ST deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0958115",
  "properties": {
    "xrefs": [
      "GARD:0026935",
      "MEDGEN:1864006",
      "Orphanet:656283",
      "UMLS:C5925103"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 18207,
      "label": "hyper-IgE syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4548
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080545",
          "GARD:0010956",
          "MEDGEN:854488",
          "NANDO:1200340",
          "NANDO:2200713",
          "NCIT:C3144",
          "OMIMPS:147060",
          "Orphanet:331223",
          "UMLS:C3887645",
          "icd11.foundation:223461798"
        ],
        "synonyms": [
          "HIES",
          "hyper-IgE recurrent infection syndrome",
          "hyperimmunoglobulin E syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections."
      },
      "child_count": 14,
      "reference_id": "MONDO:0018037"
    },
    {
      "id": 19475,
      "label": "bent bone dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019196",
          "ICD9:756.59",
          "MEDGEN:609415",
          "Orphanet:93439",
          "SCTID:254095002",
          "UMLS:C0432238"
        ],
        "synonyms": [
          "campomelic dysplasia and related disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 11,
      "reference_id": "MONDO:0019698"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16075,
      "label": "combined immunodeficiency"
    },
    {
      "id": 18207,
      "label": "hyper-IgE syndrome"
    },
    {
      "id": 19475,
      "label": "bent bone dysplasia"
    }
  ]
}