{
  "id": 23290,
  "label": "T+ B+ severe combined immunodeficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044201",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16628,
      "label": "severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:627",
          "GARD:0007628",
          "HP:0004430",
          "MEDGEN:88328",
          "MESH:D016511",
          "MedDRA:10069566",
          "NCIT:C3472",
          "NORD:1706",
          "Orphanet:183660",
          "SCTID:31323000",
          "UMLS:C0085110",
          "icd11.foundation:963193284"
        ],
        "synonyms": [
          "SCID",
          "severe combined immunodeficiency",
          "severe combined immunodeficiency (disease)",
          "severe combined immunodeficiency disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells."
      },
      "child_count": 11,
      "reference_id": "MONDO:0015974"
    }
  ],
  "children": [
    {
      "id": 15090,
      "label": "severe combined immunodeficiency due to CARD11 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23290
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014081"
    },
    {
      "id": 15272,
      "label": "severe combined immunodeficiency due to IKK2 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23290
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111959",
          "GARD:0017641",
          "MEDGEN:1648569",
          "OMIM:615592",
          "Orphanet:397787",
          "UMLS:C4747743"
        ],
        "synonyms": [
          "SCID due to IKK2 deficiency",
          "immunodeficiency 15B",
          "immunodeficiency type 15",
          "IMD15",
          "immunodeficiency 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014267"
    }
  ],
  "roots": [
    {
      "id": 16628,
      "label": "severe combined immunodeficiency"
    }
  ]
}