{
  "id": 3462,
  "label": "congenital T-cell immunodeficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001222",
  "properties": {
    "xrefs": [
      "DOID:11200",
      "GARD:0027570",
      "MEDGEN:232099",
      "NCIT:C27872",
      "UMLS:C1333147"
    ],
    "synonyms": [
      "congenital T-cell immunodeficiency",
      "T cell deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5659,
      "label": "T-cell immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:613",
          "GARD:0005107",
          "MEDGEN:226894",
          "NCIT:C27145",
          "SCTID:402792003",
          "UMLS:C1274233"
        ],
        "synonyms": [
          "T-cell immunodeficiency",
          "T-lymphocyte deficiency (finding)",
          "T-lymphocyte immunodeficiency",
          "T lymphocyte deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective."
      },
      "child_count": 3,
      "reference_id": "MONDO:0003780"
    }
  ],
  "children": [
    {
      "id": 9851,
      "label": "DiGeorge syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3462,
        18847,
        20691,
        24270,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11198",
          "GARD:0015118",
          "GTR:AN1145678",
          "ICD10CM:D82.1",
          "ICD9:279.11",
          "MEDGEN:4297",
          "MESH:D004062",
          "NANDO:1200339",
          "NANDO:1200688",
          "NANDO:2200712",
          "NCIT:C2989",
          "OMIM:188400",
          "SCTID:77128003",
          "UMLS:C0012236"
        ],
        "synonyms": [
          "22q deletion syndrome(s)",
          "22q11.2 deletion syndrome",
          "DGS",
          "DGS1",
          "Di-George syndrome",
          "DiGeorge anomaly",
          "DiGeorge syndrome",
          "DiGeorge syndrome type 1",
          "DiGeorge's syndrome",
          "pharyngeal pouch syndrome",
          "Shprintzen syndrome",
          "Sphrintzen",
          "Catch22",
          "DiGeorge syndrome chromosome region",
          "Takao VCF syndrome",
          "VCF",
          "chromosome 22Q11.2 deletion syndrome",
          "hypoplasia of thymus and parathyroids",
          "third and fourth pharyngeal pouch syndrome",
          "velo-cardio-facial syndrome",
          "velocardiofacial syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008564"
    },
    {
      "id": 10680,
      "label": "Nezelof syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2012",
          "GARD:0007201",
          "ICD10CM:D81.4",
          "ICD9:279.13",
          "MEDGEN:101814",
          "MESH:C536288",
          "OMIM:242700",
          "Orphanet:83471",
          "SCTID:55602000",
          "UMLS:C0152094",
          "icd11.foundation:215376282"
        ],
        "synonyms": [
          "Nezelof syndrome",
          "Nezelof's syndrome",
          "T-lymphocyte deficiency",
          "immune defect due to absence Of Thymus",
          "immune defect due to absence of THYMUS",
          "thymic aplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009451"
    }
  ],
  "roots": [
    {
      "id": 5659,
      "label": "T-cell immunodeficiency"
    }
  ]
}