{
  "id": 15090,
  "label": "severe combined immunodeficiency due to CARD11 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014081",
  "properties": {
    "xrefs": [
      "DOID:0111957",
      "GARD:0017549",
      "MEDGEN:767600",
      "OMIM:615206",
      "Orphanet:357237",
      "UMLS:C3554686"
    ],
    "synonyms": [
      "immunodeficiency 11A",
      "immunodeficiency type 11",
      "CARD11 immunodeficiency",
      "IMD11",
      "IMD11A",
      "immunodeficiency 11"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23290,
      "label": "T+ B+ severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842248",
          "Orphanet:397802",
          "UMLS:C5681156"
        ],
        "synonyms": [
          "T+B+ SCID",
          "T-cell positive B-cell positive SCID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0044201"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23290,
      "label": "T+ B+ severe combined immunodeficiency"
    }
  ]
}