{
  "id": 12255,
  "label": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011132",
  "properties": {
    "xrefs": [
      "DOID:0060769",
      "GARD:0004358",
      "MEDGEN:355713",
      "MESH:C536781",
      "OMIM:601705",
      "Orphanet:169095",
      "SCTID:720345008",
      "UMLS:C1866426"
    ],
    "synonyms": [
      "FOXN1 deficiency",
      "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
      "alopecia immunodeficiency",
      "alymphoid cystic thymic dysgenesis",
      "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome",
      "winged helix deficiency",
      "Pignata Guarino syndrome",
      "T-cell immunodeficiency, congenital alopecia and nail dystrophy",
      "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 16628,
      "label": "severe combined immunodeficiency"
    }
  ]
}