{
  "id": 16467,
  "label": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015703",
  "properties": {
    "xrefs": [
      "GARD:0017053",
      "MEDGEN:1842819",
      "Orphanet:169160",
      "UMLS:C5679578"
    ],
    "synonyms": [
      "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": [
    {
      "id": 13476,
      "label": "immunodeficiency 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16467
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060007",
          "DOID:0111942",
          "GARD:0018294",
          "MEDGEN:346666",
          "MESH:C565712",
          "OMIM:610163",
          "UMLS:C1857798"
        ],
        "synonyms": [
          "CD247 severe combined immunodeficiency (disease)",
          "CD3zeta deficiency",
          "immunodeficiency 25",
          "immunodeficiency type 25",
          "severe combined immunodeficiency (disease) caused by mutation in CD247",
          "IMD25",
          "immunodeficiency due to defect in CD3-zeta"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012426"
    },
    {
      "id": 15283,
      "label": "immunodeficiency 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16467,
        22249
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060017",
          "DOID:0111971",
          "GARD:0018295",
          "MEDGEN:816457",
          "OMIM:615615",
          "UMLS:C3810127"
        ],
        "synonyms": [
          "CD3-Epsilon deficiency",
          "IMD18",
          "immunodeficiency 18",
          "immunodeficiency 18, SCID variant",
          "immunodeficiency 18, Severe combined immunodeficiency variant",
          "immunodeficiency type 18"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014278"
    },
    {
      "id": 15284,
      "label": "immunodeficiency 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16467,
        22249
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060016",
          "DOID:0111972",
          "GARD:0018296",
          "MEDGEN:816477",
          "OMIM:615617",
          "UMLS:C3810147"
        ],
        "synonyms": [
          "CD3D severe combined immunodeficiency (disease)",
          "CD3delta deficiency",
          "immunodeficiency 19",
          "immunodeficiency type 19",
          "severe combined immunodeficiency (disease) caused by mutation in CD3D",
          "CD3-Delta deficiency",
          "IMD19",
          "SCID, T cell-negative, B cell-positive, NK cell-positive",
          "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014280"
    }
  ],
  "roots": [
    {
      "id": 23289,
      "label": "T-B+ severe combined immunodeficiency"
    }
  ]
}