{
  "id": 16465,
  "label": "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015701",
  "properties": {
    "xrefs": [
      "DOID:0060015",
      "GARD:0017051",
      "MEDGEN:1842915",
      "Orphanet:169154",
      "UMLS:C5679577"
    ],
    "synonyms": [
      "IL-7R",
      "IL-7Ralpha deficiency",
      "T-B+ SCID due to IL-7Ralpha deficiency",
      "interleukin-7 receptor alpha deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "id": 23289,
      "label": "T-B+ severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021405",
          "MEDGEN:1842847",
          "Orphanet:317416",
          "UMLS:C5679894"
        ],
        "synonyms": [
          "T-B+ SCID",
          "T-cell negative B-cell positive SCID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive."
      },
      "child_count": 10,
      "reference_id": "MONDO:0044200"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 23289,
      "label": "T-B+ severe combined immunodeficiency"
    }
  ]
}