{
  "id": 13226,
  "label": "immunodeficiency 104",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012163",
  "properties": {
    "xrefs": [
      "DOID:0090014",
      "GARD:0018293",
      "MEDGEN:1801019",
      "MESH:C563822",
      "OMIM:608971",
      "UMLS:C5676890"
    ],
    "synonyms": [
      "IMD104",
      "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID",
      "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive",
      "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type",
      "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive",
      "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 22249,
      "label": "familial severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027938",
          "OMIMPS:601457"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0031520"
    },
    {
      "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": 22249,
      "label": "familial severe combined immunodeficiency"
    },
    {
      "id": 23289,
      "label": "T-B+ severe combined immunodeficiency"
    }
  ]
}